Linked Data
ClinVar Variation Id:
797524
ClinVar RCV Id:
RCV000980988
dbSNP Id:
rs142939020
ExAC:
4:104032167 C / T
gnomAD v2:
4-104032167-C-T
gnomAD v3:
4-103111010-C-T
gnomAD v4:
4-103111010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103111010C>T , CM000666.2:g.103111010C>T | GRCh38 |
| NC_000004.11:g.104032167C>T , CM000666.1:g.104032167C>T | GRCh37 |
| NC_000004.10:g.104251616C>T | NCBI36 |
| NG_041798.1:g.92400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.7542G>A MANE Select | ENSP00000265148.3:p.Val2514= | |
| ENST00000380026.8:c.7179G>A | ENSP00000369365.3:p.Val2393= | |
| ENST00000265148.7:c.7542G>A | ENSP00000265148.3:p.Val2514= | |
| ENST00000380026.7:c.7179G>A | ENSP00000369365.3:p.Val2393= | |
| ENST00000611174.4:c.7431G>A | ENSP00000483542.1:p.Val2477= | |
| NM_001286734.1:c.7179G>A | NP_001273663.1:p.Val2393= | |
| NM_001813.2:c.7542G>A | NP_001804.2:p.Val2514= | |
| XM_011531544.1:c.7467G>A | XP_011529846.1:p.Val2489= | |
| XM_011531545.1:c.7383G>A | XP_011529847.1:p.Val2461= | |
| XM_011531546.1:c.7338G>A | XP_011529848.1:p.Val2446= | |
| XM_011531547.1:c.7254G>A | XP_011529849.1:p.Val2418= | |
| XM_011531548.1:c.7251G>A | XP_011529850.1:p.Val2417= | |
| XM_011531549.1:c.7098G>A | XP_011529851.1:p.Val2366= | |
| XM_011531544.2:c.7467G>A | XP_011529846.1:p.Val2489= | |
| XM_011531545.2:c.7383G>A | XP_011529847.1:p.Val2461= | |
| XM_011531546.3:c.7338G>A | XP_011529848.1:p.Val2446= | |
| XM_011531547.2:c.7254G>A | XP_011529849.1:p.Val2418= | |
| XM_011531548.2:c.7251G>A | XP_011529850.1:p.Val2417= | |
| XM_011531549.2:c.7098G>A | XP_011529851.1:p.Val2366= | |
| XM_017007659.1:c.7092G>A | XP_016863148.1:p.Val2364= | |
| NM_001286734.2:c.7179G>A | NP_001273663.1:p.Val2393= | |
| NM_001813.3:c.7542G>A MANE Select | NP_001804.2:p.Val2514= |