Linked Data
ClinVar Variation Id:
711862
ClinVar RCV Id:
RCV000883686
dbSNP Id:
rs781110046
ExAC:
4:104037787 C / T
gnomAD v2:
4-104037787-C-T
gnomAD v4:
4-103116630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103116630C>T , CM000666.2:g.103116630C>T | GRCh38 |
| NC_000004.11:g.104037787C>T , CM000666.1:g.104037787C>T | GRCh37 |
| NC_000004.10:g.104257236C>T | NCBI36 |
| NG_041798.1:g.86780G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.7389G>A MANE Select | ENSP00000265148.3:p.Lys2463= | |
| ENST00000380026.8:c.7026G>A | ENSP00000369365.3:p.Lys2342= | |
| ENST00000509823.2:c.246G>A | ENSP00000499964.1:p.Lys82= | |
| ENST00000265148.7:c.7389G>A | ENSP00000265148.3:p.Lys2463= | |
| ENST00000380026.7:c.7026G>A | ENSP00000369365.3:p.Lys2342= | |
| ENST00000509823.1:n.249G>A | ||
| ENST00000611174.4:c.7278G>A | ENSP00000483542.1:p.Lys2426= | |
| NM_001286734.1:c.7026G>A | NP_001273663.1:p.Lys2342= | |
| NM_001813.2:c.7389G>A | NP_001804.2:p.Lys2463= | |
| XM_011531544.1:c.7314G>A | XP_011529846.1:p.Lys2438= | |
| XM_011531545.1:c.7230G>A | XP_011529847.1:p.Lys2410= | |
| XM_011531546.1:c.7185G>A | XP_011529848.1:p.Lys2395= | |
| XM_011531547.1:c.7101G>A | XP_011529849.1:p.Lys2367= | |
| XM_011531548.1:c.7098G>A | XP_011529850.1:p.Lys2366= | |
| XM_011531549.1:c.6945G>A | XP_011529851.1:p.Lys2315= | |
| XM_011531544.2:c.7314G>A | XP_011529846.1:p.Lys2438= | |
| XM_011531545.2:c.7230G>A | XP_011529847.1:p.Lys2410= | |
| XM_011531546.3:c.7185G>A | XP_011529848.1:p.Lys2395= | |
| XM_011531547.2:c.7101G>A | XP_011529849.1:p.Lys2367= | |
| XM_011531548.2:c.7098G>A | XP_011529850.1:p.Lys2366= | |
| XM_011531549.2:c.6945G>A | XP_011529851.1:p.Lys2315= | |
| XM_017007659.1:c.6939G>A | XP_016863148.1:p.Lys2313= | |
| NM_001286734.2:c.7026G>A | NP_001273663.1:p.Lys2342= | |
| NM_001813.3:c.7389G>A MANE Select | NP_001804.2:p.Lys2463= |