Linked Data
ClinVar Variation Id:
313366
dbSNP Id:
rs763425111
gnomAD v2:
14-55309478-G-A
gnomAD v3:
14-54842760-G-A
gnomAD v4:
14-54842760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54842760G>A , CM000676.2:g.54842760G>A | GRCh38 |
| NC_000014.8:g.55309478G>A , CM000676.1:g.55309478G>A | GRCh37 |
| NC_000014.7:g.54379228G>A | NCBI36 |
| NG_008647.1:g.65065C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.*1257C>T MANE Select | ENSP00000419045.2:n.*1257C>T | |
| ENST00000254299.8:n.2158C>T | ||
| ENST00000395514.5:c.*311C>T | ENSP00000378890.1:n.*311C>T | |
| ENST00000491895.6:c.*1257C>T | ENSP00000419045.2:n.*1257C>T | |
| ENST00000536224.2:c.*279C>T | ENSP00000445246.2:n.*279C>T | |
| ENST00000543643.6:c.*307C>T | ENSP00000444011.2:n.*307C>T | |
| ENST00000622544.4:c.*1257C>T | ENSP00000477796.1:n.*1257C>T | |
| NM_000161.2:c.*1257C>T | NP_000152.1:n.*1257C>T | |
| NM_001024024.1:c.*311C>T | NP_001019195.1:n.*311C>T | |
| NM_001024070.1:c.*307C>T | NP_001019241.1:n.*307C>T | |
| NM_001024071.1:c.*279C>T | NP_001019242.1:n.*279C>T | |
| XM_005267530.1:c.*1034C>T | XP_005267587.1:n.*1034C>T | |
| XM_017021218.1:c.*1257C>T | XP_016876707.1:n.*1257C>T | |
| NM_000161.3:c.*1257C>T MANE Select | NP_000152.1:n.*1257C>T | |
| NM_001024070.2:c.*307C>T | NP_001019241.1:n.*307C>T | |
| NM_001024071.2:c.*279C>T | NP_001019242.1:n.*279C>T | |
| NM_001024024.2:c.*311C>T | NP_001019195.1:n.*311C>T |