Linked Data
ClinVar Variation Id:
2361121
ClinVar RCV Id:
RCV004199042
dbSNP Id:
rs376867231
ExAC:
14:34269303 A / C
gnomAD v2:
14-34269303-A-C
gnomAD v3:
14-33800097-A-C
gnomAD v4:
14-33800097-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800097A>C , CM000676.2:g.33800097A>C | GRCh38 |
| NC_000014.8:g.34269303A>C , CM000676.1:g.34269303A>C | GRCh37 |
| NC_000014.7:g.33339054A>C | NCBI36 |
| NG_013036.1:g.865845A>C | |
| NG_013036.2:g.865845A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1790A>C MANE Select | ENSP00000348460.4:p.His597Pro | |
| ENST00000551634.6:c.1799A>C | ENSP00000448373.2:p.His600Pro | |
| ENST00000680362.1:c.1690A>C | ||
| ENST00000681323.1:c.793+2516A>C | ||
| ENST00000346562.6:c.1694A>C | ENSP00000319610.5:p.His565Pro | |
| ENST00000356141.8:c.1790A>C | ENSP00000348460.4:p.His597Pro | |
| ENST00000357798.9:c.1751A>C | ENSP00000350446.5:p.His584Pro | |
| ENST00000548645.5:c.1700A>C | ENSP00000448916.1:p.His567Pro | |
| ENST00000551492.5:c.1805A>C | ENSP00000450392.1:p.His602Pro | |
| ENST00000551634.5:c.1712A>C | ENSP00000448373.1:p.His571Pro | |
| NM_001164749.1:c.1790A>C | NP_001158221.1:p.His597Pro | |
| NM_001165893.1:c.1700A>C | NP_001159365.1:p.His567Pro | |
| NM_022123.2:c.1694A>C | NP_071406.1:p.His565Pro | |
| NM_173159.2:c.1751A>C | NP_775182.1:p.His584Pro | |
| XM_005267991.2:c.1811A>C | XP_005268048.1:p.His604Pro | |
| XM_005267992.2:c.1805A>C | XP_005268049.1:p.His602Pro | |
| XM_005267993.2:c.1751A>C | XP_005268050.1:p.His584Pro | |
| XM_011537067.1:c.1841A>C | XP_011535369.1:p.His614Pro | |
| XM_011537068.1:c.1832A>C | XP_011535370.1:p.His611Pro | |
| XM_011537069.1:c.1802A>C | XP_011535371.1:p.His601Pro | |
| XM_011537070.1:c.1745A>C | XP_011535372.1:p.His582Pro | |
| XM_011537071.1:c.1712A>C | XP_011535373.1:p.His571Pro | |
| XM_011537072.1:c.1691A>C | XP_011535374.1:p.His564Pro | |
| XM_011537073.1:c.1484A>C | XP_011535375.1:p.His495Pro | |
| XM_011537074.1:c.1484A>C | XP_011535376.1:p.His495Pro | |
| XM_005267991.3:c.1898A>C | XP_005268048.2:p.His633Pro | |
| XM_005267992.3:c.1892A>C | XP_005268049.2:p.His631Pro | |
| XM_011537067.2:c.1841A>C | XP_011535369.1:p.His614Pro | |
| XM_011537069.2:c.1889A>C | XP_011535371.2:p.His630Pro | |
| XM_011537070.2:c.1745A>C | XP_011535372.1:p.His582Pro | |
| XM_011537071.2:c.1799A>C | XP_011535373.2:p.His600Pro | |
| XM_011537072.2:c.1691A>C | XP_011535374.1:p.His564Pro | |
| XM_017021582.1:c.1949A>C | XP_016877071.1:p.His650Pro | |
| XM_017021583.1:c.1940A>C | XP_016877072.1:p.His647Pro | |
| XM_017021584.1:c.1859A>C | XP_016877073.1:p.His620Pro | |
| XM_017021585.1:c.1808A>C | XP_016877074.1:p.His603Pro | |
| XM_017021586.1:c.1484A>C | XP_016877075.1:p.His495Pro | |
| XM_017021587.1:c.1484A>C | XP_016877076.1:p.His495Pro | |
| XM_017021588.1:c.1484A>C | XP_016877077.1:p.His495Pro | |
| NM_001164749.2:c.1790A>C MANE Select | NP_001158221.1:p.His597Pro | |
| NM_001165893.2:c.1700A>C | NP_001159365.1:p.His567Pro | |
| NM_022123.3:c.1694A>C | NP_071406.1:p.His565Pro | |
| NM_173159.3:c.1751A>C | NP_775182.1:p.His584Pro | |
| NM_001394988.1:c.1745A>C | NP_001381917.1:p.His582Pro | |
| NM_001394989.1:c.1691A>C | NP_001381918.1:p.His564Pro |