Linked Data
ClinVar Variation Id:
283383
ClinVar RCV Id:
RCV000270853
RCV000291700
RCV000295266
RCV000348827
RCV000352445
RCV000383692
RCV000391418
RCV000399939
RCV001088993
RCV003930082
dbSNP Id:
rs141176394
ExAC:
4:111539617 T / A
gnomAD v2:
4-111539617-T-A
gnomAD v3:
4-110618461-T-A
gnomAD v4:
4-110618461-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110618461T>A , CM000666.2:g.110618461T>A | GRCh38 |
| NC_000004.11:g.111539617T>A , CM000666.1:g.111539617T>A | GRCh37 |
| NC_000004.10:g.111759066T>A | NCBI36 |
| NG_007120.1:g.23892A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613094.5:c.412A>T | ENSP00000484763.2:p.Ile138Phe | |
| ENST00000614423.5:c.537A>T | ENSP00000481951.2:p.Ser179= | |
| ENST00000616641.5:n.605A>T | ||
| ENST00000644488.2:n.609A>T | ||
| ENST00000394595.8:c.618A>T | ENSP00000378095.4:p.Ser206= | |
| ENST00000644488.1:n.681A>T | ||
| ENST00000644743.1:c.639A>T MANE Select | ENSP00000495061.1:p.Ser213= | |
| ENST00000645131.1:n.570A>T | ||
| ENST00000306732.7:c.639A>T | ENSP00000304169.3:p.Ser213= | |
| ENST00000354925.6:c.618A>T | ENSP00000347004.2:p.Ser206= | |
| ENST00000355080.9:c.480A>T | ENSP00000347192.5:p.Ser160= | |
| ENST00000394595.7:c.412A>T | ENSP00000378095.3:p.Ile138Phe | |
| ENST00000394598.6:c.618A>T | ENSP00000378097.2:p.Ser206= | |
| ENST00000511837.5:c.618A>T | ENSP00000421454.1:p.Ser206= | |
| ENST00000607868.1:n.366A>T | ||
| ENST00000613094.4:c.618A>T | ENSP00000484763.1:p.Ser206= | |
| ENST00000614423.4:c.618A>T | ENSP00000481951.1:p.Ser206= | |
| ENST00000616641.4:c.480A>T | ENSP00000484909.1:p.Ser160= | |
| NM_000325.5:c.639A>T | NP_000316.2:p.Ser213= | |
| NM_001204397.1:c.618A>T | NP_001191326.1:p.Ser206= | |
| NM_001204398.1:c.618A>T | NP_001191327.1:p.Ser206= | |
| NM_001204399.1:c.480A>T | NP_001191328.1:p.Ser160= | |
| NM_153426.2:c.618A>T | NP_700475.1:p.Ser206= | |
| NM_153427.2:c.480A>T | NP_700476.1:p.Ser160= | |
| XM_006714235.2:c.618A>T | XP_006714298.1:p.Ser206= | |
| XM_011532027.1:c.480A>T | XP_011530329.1:p.Ser160= | |
| XM_024454090.1:c.285A>T | XP_024309858.1:p.Ser95= | |
| NM_000325.6:c.639A>T MANE Select | NP_000316.2:p.Ser213= | |
| NM_001204397.2:c.618A>T | NP_001191326.1:p.Ser206= | |
| NM_153426.3:c.618A>T | NP_700475.1:p.Ser206= | |
| NM_153427.3:c.480A>T | NP_700476.1:p.Ser160= |