Linked Data
dbSNP Id:
rs2362967
gnomAD v2:
10-125557074-C-T
gnomAD v3:
10-123797558-C-T
gnomAD v4:
10-123797558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123797558C>T , CM000672.2:g.123797558C>T | GRCh38 |
| NC_000010.10:g.125557074C>T , CM000672.1:g.125557074C>T | GRCh37 |
| NC_000010.9:g.125547064C>T | NCBI36 |
| NG_052814.1:g.151537G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241305.4:c.889+418G>A MANE Select | ENSP00000241305.3:n.889+418G>A | |
| ENST00000241305.3:c.889+418G>A | ENSP00000241305.3:n.889+418G>A | |
| ENST00000368854.7:n.759+418G>A | ||
| ENST00000615851.4:c.-624+418G>A | ENSP00000483180.1:n.-624+418G>A | |
| NM_198148.2:c.889+418G>A | NP_937791.2:n.889+418G>A | |
| XM_005269528.2:c.889+418G>A | XP_005269585.1:n.889+418G>A | |
| XM_011539283.1:c.889+418G>A | XP_011537585.1:n.889+418G>A | |
| XM_011539284.1:c.889+418G>A | XP_011537586.1:n.889+418G>A | |
| XM_011539285.1:c.562+418G>A | XP_011537587.1:n.562+418G>A | |
| XM_011539286.1:c.208+418G>A | XP_011537588.1:n.208+418G>A | |
| XM_005269528.3:c.889+418G>A | XP_005269585.1:n.889+418G>A | |
| XM_011539283.2:c.889+418G>A | XP_011537585.1:n.889+418G>A | |
| XM_011539285.2:c.562+418G>A | XP_011537587.1:n.562+418G>A | |
| XM_017015673.1:c.562+418G>A | XP_016871162.1:n.562+418G>A | |
| NM_198148.3:c.889+418G>A MANE Select | NP_937791.2:n.889+418G>A |