Linked Data
ClinVar Variation Id:
391274
dbSNP Id:
rs767571327
ExAC:
4:121616308 G / A
gnomAD v2:
4-121616308-G-A
gnomAD v3:
4-120695153-G-A
gnomAD v4:
4-120695153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.120695153G>A , CM000666.2:g.120695153G>A | GRCh38 |
| NC_000004.11:g.121616308G>A , CM000666.1:g.121616308G>A | GRCh37 |
| NC_000004.10:g.121835758G>A | NCBI36 |
| NG_031862.2:g.232706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264808.8:c.1851C>T MANE Select | ENSP00000264808.3:p.Leu617= | |
| ENST00000264808.7:c.1851C>T | ENSP00000264808.3:p.Leu617= | |
| ENST00000428209.6:c.1758C>T | ENSP00000404832.2:p.Leu586= | |
| ENST00000505484.5:n.2354C>T | ||
| ENST00000513741.1:n.104-10128C>T | ||
| ENST00000515109.5:c.*166C>T | ENSP00000422309.1:n.*166C>T | |
| NM_001300823.1:c.1758C>T | NP_001287752.1:p.Leu586= | |
| NM_001300824.1:c.*166C>T | NP_001287753.1:n.*166C>T | |
| NM_018699.3:c.1851C>T | NP_061169.2:p.Leu617= | |
| XM_011531562.1:c.1884C>T | XP_011529864.1:p.Leu628= | |
| XM_011531563.1:c.1791C>T | XP_011529865.1:p.Leu597= | |
| XM_011531564.1:c.1779C>T | XP_011529866.1:p.Leu593= | |
| XM_011531566.1:c.1762-10128C>T | XP_011529868.1:n.1762-10128C>T | |
| XM_011531569.1:c.*44-10128C>T | XP_011529871.1:n.*44-10128C>T | |
| XM_011531570.1:c.1170C>T | XP_011529872.1:p.Leu390= | |
| XM_011531562.2:c.1884C>T | XP_011529864.1:p.Leu628= | |
| XM_011531563.2:c.1791C>T | XP_011529865.1:p.Leu597= | |
| XM_011531564.2:c.1779C>T | XP_011529866.1:p.Leu593= | |
| XM_011531566.3:c.1762-10128C>T | XP_011529868.1:n.1762-10128C>T | |
| XM_011531569.3:c.*44-10128C>T | XP_011529871.1:n.*44-10128C>T | |
| XM_011531570.3:c.1170C>T | XP_011529872.1:p.Leu390= | |
| XM_017007668.2:c.1806C>T | XP_016863157.1:p.Leu602= | |
| XM_017007669.1:c.*166C>T | XP_016863158.1:n.*166C>T | |
| XM_017007671.1:c.909C>T | XP_016863160.1:p.Leu303= | |
| XM_024453879.1:c.1137C>T | XP_024309647.1:p.Leu379= | |
| NM_001300823.2:c.1758C>T | NP_001287752.1:p.Leu586= | |
| NM_001300824.2:c.*166C>T | NP_001287753.1:n.*166C>T | |
| NM_001379104.1:c.1884C>T | NP_001366033.1:p.Leu628= | |
| NM_001379106.1:c.1653C>T | NP_001366035.1:p.Leu551= | |
| NM_018699.4:c.1851C>T MANE Select | NP_061169.2:p.Leu617= |