Linked Data
ClinVar Variation Id:
186948
dbSNP Id:
rs147923905
ExAC:
1:45795040 C / G
gnomAD v2:
1-45795040-C-G
gnomAD v4:
1-45329368-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45329368C>G , CM000663.2:g.45329368C>G | GRCh38 |
| NC_000001.10:g.45795040C>G , CM000663.1:g.45795040C>G | GRCh37 |
| NC_000001.9:g.45567627C>G | NCBI36 |
| NG_008189.1:g.16103G>C , LRG_220:g.16103G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1120G>C | ENSP00000410263.2:p.Asp374His | |
| ENST00000435155.2:c.1537G>C | ENSP00000403655.2:p.Asp513His | |
| ENST00000467459.6:c.*366G>C | ENSP00000435889.2:n.*366G>C | |
| ENST00000483127.2:c.1522G>C | ENSP00000436469.2:p.Asp508His | |
| ENST00000485271.6:c.*247G>C | ENSP00000431264.2:n.*247G>C | |
| ENST00000529892.6:c.1357G>C | ENSP00000432528.2:p.Asp453His | |
| ENST00000533178.6:c.*833G>C | ENSP00000436430.2:n.*833G>C | |
| ENST00000672314.2:c.1504G>C | ENSP00000500828.2:p.Asp502His | |
| ENST00000710952.2:c.1588G>C MANE Plus Clinical | ENSP00000518552.2:p.Asp530His | |
| ENST00000672818.3:c.1579G>C | ENSP00000500891.1:p.Asp527His | |
| ENST00000456914.7:c.1504G>C MANE Select | ENSP00000407590.2:p.Asp502His | |
| ENST00000671898.1:c.*247G>C | ENSP00000499896.1:n.*247G>C | |
| ENST00000672011.1:c.*833G>C | ENSP00000500418.1:n.*833G>C | |
| ENST00000672818.2:c.1579G>C | ENSP00000500891.1:p.Asp527His | |
| ENST00000354383.10:c.1507G>C | ENSP00000346354.6:p.Asp503His | |
| ENST00000355498.6:c.1504G>C | ENSP00000347685.2:p.Asp502His | |
| ENST00000372098.7:c.1579G>C | ENSP00000361170.3:p.Asp527His | |
| ENST00000372104.5:c.1504G>C | ENSP00000361176.1:p.Asp502His | |
| ENST00000372110.7:c.1549G>C | ENSP00000361182.3:p.Asp517His | |
| ENST00000372115.7:c.1546G>C | ENSP00000361187.3:p.Asp516His | |
| ENST00000448481.5:c.1537G>C | ENSP00000409718.1:p.Asp513His | |
| ENST00000450313.5:c.1588G>C | ENSP00000408176.1:p.Asp530His | |
| ENST00000456914.6:c.1504G>C | ENSP00000407590.2:p.Asp502His | |
| ENST00000467459.5:c.921G>C | ENSP00000435889.1:n.921G>C | |
| ENST00000475516.5:c.*1317G>C | ENSP00000433843.1:n.*1317G>C | |
| ENST00000481571.5:c.*1317G>C | ENSP00000436597.1:n.*1317G>C | |
| ENST00000482094.5:n.825G>C | ||
| ENST00000485271.5:c.381G>C | ||
| ENST00000488731.6:c.589G>C | ENSP00000432330.1:p.Asp197His | |
| ENST00000528013.6:c.1546G>C | ENSP00000433130.2:p.Asp516His | |
| ENST00000529892.5:c.579G>C | ||
| ENST00000529984.5:c.589G>C | ENSP00000437093.1:p.Asp197His | |
| ENST00000531105.5:c.185G>C | ENSP00000431292.1:p.Gly62Ala | |
| ENST00000533178.5:c.1133G>C | ENSP00000436430.1:n.1133G>C | |
| NM_001048171.1:c.1546G>C | NP_001041636.1:p.Asp516His | |
| NM_001048172.1:c.1507G>C | NP_001041637.1:p.Asp503His | |
| NM_001048173.1:c.1504G>C | NP_001041638.1:p.Asp502His | |
| NM_001048174.1:c.1504G>C | NP_001041639.1:p.Asp502His | |
| NM_001128425.1:c.1588G>C , LRG_220t1:c.1588G>C | NP_001121897.1:p.Asp530His | |
| NM_001293190.1:c.1549G>C | NP_001280119.1:p.Asp517His | |
| NM_001293191.1:c.1537G>C | NP_001280120.1:p.Asp513His | |
| NM_001293192.1:c.1228G>C | NP_001280121.1:p.Asp410His | |
| NM_001293195.1:c.1504G>C | NP_001280124.1:p.Asp502His | |
| NM_001293196.1:c.1228G>C | NP_001280125.1:p.Asp410His | |
| NM_012222.2:c.1579G>C | NP_036354.1:p.Asp527His | |
| XM_011541497.1:c.1564G>C | XP_011539799.1:p.Asp522His | |
| XM_011541498.1:c.1546G>C | XP_011539800.1:p.Asp516His | |
| XM_011541499.1:c.1546G>C | XP_011539801.1:p.Asp516His | |
| XM_011541500.1:c.1546G>C | XP_011539802.1:p.Asp516His | |
| XM_011541501.1:c.1546G>C | XP_011539803.1:p.Asp516His | |
| XM_011541502.1:c.1546G>C | XP_011539804.1:p.Asp516His | |
| XM_011541503.1:c.1546G>C | XP_011539805.1:p.Asp516His | |
| XM_011541504.1:c.1537G>C | XP_011539806.1:p.Asp513His | |
| XM_011541505.1:c.1126G>C | XP_011539807.1:p.Asp376His | |
| XM_011541506.1:c.1126G>C | XP_011539808.1:p.Asp376His | |
| XM_011541507.1:c.1117G>C | XP_011539809.1:p.Asp373His | |
| XM_011541508.1:c.1132G>C | XP_011539810.1:p.Asp378His | |
| XR_946658.1:n.1815G>C | ||
| NM_001350650.1:c.1159G>C | NP_001337579.1:p.Asp387His | |
| NM_001350651.1:c.1159G>C | NP_001337580.1:p.Asp387His | |
| NR_146882.1:n.1942G>C | ||
| NR_146883.1:n.1756G>C | ||
| XM_011541497.3:c.1564G>C | XP_011539799.1:p.Asp522His | |
| XM_011541500.3:c.1546G>C | XP_011539802.1:p.Asp516His | |
| XM_011541501.2:c.1546G>C | XP_011539803.1:p.Asp516His | |
| XM_011541502.2:c.1546G>C | XP_011539804.1:p.Asp516His | |
| XM_011541503.2:c.1546G>C | XP_011539805.1:p.Asp516His | |
| XM_011541504.2:c.1537G>C | XP_011539806.1:p.Asp513His | |
| XM_011541505.2:c.1126G>C | XP_011539807.1:p.Asp376His | |
| XM_011541506.2:c.1126G>C | XP_011539808.1:p.Asp376His | |
| XM_017001331.1:c.1546G>C | XP_016856820.1:p.Asp516His | |
| XM_017001332.1:c.1546G>C | XP_016856821.1:p.Asp516His | |
| XM_017001333.1:c.1546G>C | XP_016856822.1:p.Asp516His | |
| XM_017001334.1:c.1507G>C | XP_016856823.1:p.Asp503His | |
| XM_017001335.1:c.1228G>C | XP_016856824.1:p.Asp410His | |
| XM_017001336.1:c.1159G>C | XP_016856825.1:p.Asp387His | |
| XM_017001337.1:c.1159G>C | XP_016856826.1:p.Asp387His | |
| XM_024447244.1:c.1159G>C | XP_024303012.1:p.Asp387His | |
| XM_024447245.1:c.1159G>C | XP_024303013.1:p.Asp387His | |
| XM_024447248.1:c.1117G>C | XP_024303016.1:p.Asp373His | |
| XM_024447249.1:c.988G>C | XP_024303017.1:p.Asp330His | |
| XM_024447250.1:c.988G>C | XP_024303018.1:p.Asp330His | |
| XM_024447251.1:c.988G>C | XP_024303019.1:p.Asp330His | |
| XR_001737190.1:n.1729G>C | ||
| XR_001737192.1:n.1541G>C | ||
| XR_002956643.1:n.1721G>C | ||
| XR_002956644.1:n.2256G>C | ||
| XR_946658.2:n.1829G>C | ||
| NM_001048171.2:c.1504G>C | NP_001041636.2:p.Asp502His | |
| NM_001128425.2:c.1588G>C MANE Plus Clinical | NP_001121897.1:p.Asp530His | |
| NM_001048172.2:c.1507G>C | NP_001041637.1:p.Asp503His | |
| NM_001048173.2:c.1504G>C | NP_001041638.1:p.Asp502His | |
| NM_001048174.2:c.1504G>C MANE Select | NP_001041639.1:p.Asp502His | |
| NM_001293190.2:c.1549G>C | NP_001280119.1:p.Asp517His | |
| NM_001293191.2:c.1537G>C | NP_001280120.1:p.Asp513His | |
| NM_001293192.2:c.1228G>C | NP_001280121.1:p.Asp410His | |
| NM_001293195.2:c.1504G>C | NP_001280124.1:p.Asp502His | |
| NM_001293196.2:c.1228G>C | NP_001280125.1:p.Asp410His | |
| NM_001350650.2:c.1159G>C | NP_001337579.1:p.Asp387His | |
| NM_001350651.2:c.1159G>C | NP_001337580.1:p.Asp387His | |
| NM_012222.3:c.1579G>C | NP_036354.1:p.Asp527His | |
| NR_146882.2:n.1912G>C | ||
| NR_146883.2:n.1761G>C |