Linked Data
ClinVar Variation Id:
1333858
dbSNP Id:
rs762208304
ExAC:
14:55312541 C / T
gnomAD v2:
14-55312541-C-T
gnomAD v3:
14-54845823-C-T
gnomAD v4:
14-54845823-C-T
COSMIC:
COSM1740103
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54845823C>T , CM000676.2:g.54845823C>T | GRCh38 |
| NC_000014.8:g.55312541C>T , CM000676.1:g.55312541C>T | GRCh37 |
| NC_000014.7:g.54382291C>T | NCBI36 |
| NG_008647.1:g.62002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.571G>A MANE Select | ENSP00000419045.2:p.Val191Ile | |
| ENST00000254299.8:n.719G>A | ||
| ENST00000395514.5:c.571G>A | ENSP00000378890.1:p.Val191Ile | |
| ENST00000395521.6:n.293-2769G>A | ||
| ENST00000491895.6:c.571G>A | ENSP00000419045.2:p.Val191Ile | |
| ENST00000536224.2:c.571G>A | ENSP00000445246.2:p.Val191Ile | |
| ENST00000543643.6:c.571G>A | ENSP00000444011.2:p.Val191Ile | |
| ENST00000622544.4:c.571G>A | ENSP00000477796.1:p.Val191Ile | |
| NM_000161.2:c.571G>A | NP_000152.1:p.Val191Ile | |
| NM_001024024.1:c.571G>A | NP_001019195.1:p.Val191Ile | |
| NM_001024070.1:c.571G>A | NP_001019241.1:p.Val191Ile | |
| NM_001024071.1:c.571G>A | NP_001019242.1:p.Val191Ile | |
| XM_005267530.1:c.571G>A | XP_005267587.1:p.Val191Ile | |
| XM_017021218.1:c.277G>A | XP_016876707.1:p.Val93Ile | |
| NM_000161.3:c.571G>A MANE Select | NP_000152.1:p.Val191Ile | |
| NM_001024070.2:c.571G>A | NP_001019241.1:p.Val191Ile | |
| NM_001024071.2:c.571G>A | NP_001019242.1:p.Val191Ile | |
| NM_001024024.2:c.571G>A | NP_001019195.1:p.Val191Ile |