Linked Data
ClinVar Variation Id:
411501
ClinVar RCV Id:
RCV000561606
RCV000590075
RCV000855566
RCV001157264
RCV002526456
RCV003899931
RCV004001965
dbSNP Id:
rs745811356
ExAC:
5:112177310 T / C
gnomAD v2:
5-112177310-T-C
gnomAD v3:
5-112841613-T-C
gnomAD v4:
5-112841613-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841613T>C , CM000667.2:g.112841613T>C | GRCh38 |
| NC_000005.9:g.112177310T>C , CM000667.1:g.112177310T>C | GRCh37 |
| NC_000005.8:g.112205209T>C | NCBI36 |
| NG_008481.4:g.154093T>C , LRG_130:g.154093T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6073T>C | ENSP00000473355.2:p.Tyr2025His | |
| ENST00000505350.2:c.*6025T>C | ENSP00000481752.1:n.*6025T>C | |
| ENST00000507379.6:c.5965T>C | ENSP00000423224.2:p.Tyr1989His | |
| ENST00000509732.6:c.6019T>C | ENSP00000426541.2:p.Tyr2007His | |
| ENST00000512211.7:c.6019T>C | ENSP00000423828.3:p.Tyr2007His | |
| ENST00000257430.9:c.6019T>C MANE Select | ENSP00000257430.4:p.Tyr2007His | |
| ENST00000257430.8:c.6019T>C | ENSP00000257430.4:p.Tyr2007His | |
| ENST00000508376.6:c.6019T>C | ENSP00000427089.2:p.Tyr2007His | |
| ENST00000508624.5:c.*5341T>C | ENSP00000424265.1:n.*5341T>C | |
| ENST00000520401.1:c.230+12641T>C | ||
| NM_000038.5:c.6019T>C | NP_000029.2:p.Tyr2007His | |
| NM_001127510.2:c.6019T>C | NP_001120982.1:p.Tyr2007His | |
| NM_001127511.2:c.5965T>C | NP_001120983.2:p.Tyr1989His | |
| NM_001354895.1:c.6019T>C | NP_001341824.1:p.Tyr2007His | |
| NM_001354896.1:c.6073T>C | NP_001341825.1:p.Tyr2025His | |
| NM_001354897.1:c.6049T>C | NP_001341826.1:p.Tyr2017His | |
| NM_001354898.1:c.5944T>C | NP_001341827.1:p.Tyr1982His | |
| NM_001354899.1:c.5935T>C | NP_001341828.1:p.Tyr1979His | |
| NM_001354900.1:c.5896T>C | NP_001341829.1:p.Tyr1966His | |
| NM_001354901.1:c.5842T>C | NP_001341830.1:p.Tyr1948His | |
| NM_001354902.1:c.5746T>C | NP_001341831.1:p.Tyr1916His | |
| NM_001354903.1:c.5716T>C | NP_001341832.1:p.Tyr1906His | |
| NM_001354904.1:c.5641T>C | NP_001341833.1:p.Tyr1881His | |
| NM_001354905.1:c.5539T>C | NP_001341834.1:p.Tyr1847His | |
| NM_001354906.1:c.5170T>C | NP_001341835.1:p.Tyr1724His | |
| NM_000038.6:c.6019T>C MANE Select | NP_000029.2:p.Tyr2007His | |
| NM_001127510.3:c.6019T>C | NP_001120982.1:p.Tyr2007His | |
| NM_001127511.3:c.5965T>C | NP_001120983.2:p.Tyr1989His | |
| NM_001354895.2:c.6019T>C | NP_001341824.1:p.Tyr2007His | |
| NM_001354896.2:c.6073T>C | NP_001341825.1:p.Tyr2025His | |
| NM_001354897.2:c.6049T>C | NP_001341826.1:p.Tyr2017His | |
| NM_001354898.2:c.5944T>C | NP_001341827.1:p.Tyr1982His | |
| NM_001354899.2:c.5935T>C | NP_001341828.1:p.Tyr1979His | |
| NM_001354900.2:c.5896T>C | NP_001341829.1:p.Tyr1966His | |
| NM_001354901.2:c.5842T>C | NP_001341830.1:p.Tyr1948His | |
| NM_001354902.2:c.5746T>C | NP_001341831.1:p.Tyr1916His | |
| NM_001354903.2:c.5716T>C | NP_001341832.1:p.Tyr1906His | |
| NM_001354904.2:c.5641T>C | NP_001341833.1:p.Tyr1881His | |
| NM_001354905.2:c.5539T>C | NP_001341834.1:p.Tyr1847His | |
| NM_001354906.2:c.5170T>C | NP_001341835.1:p.Tyr1724His |