Linked Data
ClinVar Variation Id:
742128
ClinVar RCV Id:
RCV000918350
dbSNP Id:
rs777325333
ExAC:
4:104062247 C / T
gnomAD v2:
4-104062247-C-T
gnomAD v3:
4-103141090-C-T
gnomAD v4:
4-103141090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.103141090C>T , CM000666.2:g.103141090C>T | GRCh38 |
| NC_000004.11:g.104062247C>T , CM000666.1:g.104062247C>T | GRCh37 |
| NC_000004.10:g.104281696C>T | NCBI36 |
| NG_041798.1:g.62320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265148.9:c.5478G>A MANE Select | ENSP00000265148.3:p.Lys1826= | |
| ENST00000380026.8:c.5403G>A | ENSP00000369365.3:p.Lys1801= | |
| ENST00000265148.7:c.5478G>A | ENSP00000265148.3:p.Lys1826= | |
| ENST00000380026.7:c.5403G>A | ENSP00000369365.3:p.Lys1801= | |
| ENST00000611174.4:c.5478G>A | ENSP00000483542.1:p.Lys1826= | |
| NM_001286734.1:c.5403G>A | NP_001273663.1:p.Lys1801= | |
| NM_001813.2:c.5478G>A | NP_001804.2:p.Lys1826= | |
| XM_011531544.1:c.5403G>A | XP_011529846.1:p.Lys1801= | |
| XM_011531545.1:c.5319G>A | XP_011529847.1:p.Lys1773= | |
| XM_011531546.1:c.5274G>A | XP_011529848.1:p.Lys1758= | |
| XM_011531547.1:c.5478G>A | XP_011529849.1:p.Lys1826= | |
| XM_011531548.1:c.5478G>A | XP_011529850.1:p.Lys1826= | |
| XM_011531549.1:c.5034G>A | XP_011529851.1:p.Lys1678= | |
| XM_011531544.2:c.5403G>A | XP_011529846.1:p.Lys1801= | |
| XM_011531545.2:c.5319G>A | XP_011529847.1:p.Lys1773= | |
| XM_011531546.3:c.5274G>A | XP_011529848.1:p.Lys1758= | |
| XM_011531547.2:c.5478G>A | XP_011529849.1:p.Lys1826= | |
| XM_011531548.2:c.5478G>A | XP_011529850.1:p.Lys1826= | |
| XM_011531549.2:c.5034G>A | XP_011529851.1:p.Lys1678= | |
| XM_017007659.1:c.5319G>A | XP_016863148.1:p.Lys1773= | |
| NM_001286734.2:c.5403G>A | NP_001273663.1:p.Lys1801= | |
| NM_001813.3:c.5478G>A MANE Select | NP_001804.2:p.Lys1826= |