Linked Data
dbSNP Id:
rs374158073
gnomAD v2:
1-103455022-T-A
gnomAD v3:
1-102989466-T-A
gnomAD v4:
1-102989466-T-A
COSMIC:
COSN6500272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102989466T>A , CM000663.2:g.102989466T>A | GRCh38 |
| NC_000001.10:g.103455022T>A , CM000663.1:g.103455022T>A | GRCh37 |
| NC_000001.9:g.103227610T>A | NCBI36 |
| NG_008033.1:g.124031A>T | |
| NG_008033.2:g.124031A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2394+52A>T MANE Select | ENSP00000359114.3:n.2394+52A>T | |
| ENST00000353414.8:c.2277+52A>T | ENSP00000302551.6:n.2277+52A>T | |
| ENST00000358392.6:c.2430+52A>T | ENSP00000351163.2:n.2430+52A>T | |
| ENST00000370096.7:c.2394+52A>T | ENSP00000359114.3:n.2394+52A>T | |
| ENST00000512756.5:c.2046+52A>T | ENSP00000426533.1:n.2046+52A>T | |
| ENST00000635193.1:c.1712+52A>T | ||
| NM_001190709.1:c.2277+52A>T | NP_001177638.1:n.2277+52A>T | |
| NM_001854.3:c.2394+52A>T | NP_001845.3:n.2394+52A>T | |
| NM_080629.2:c.2430+52A>T | NP_542196.2:n.2430+52A>T | |
| NM_080630.3:c.2046+52A>T | NP_542197.3:n.2046+52A>T | |
| XM_011540719.1:c.2394+52A>T | XP_011539021.1:n.2394+52A>T | |
| XM_011540720.1:c.627+52A>T | XP_011539022.1:n.627+52A>T | |
| XM_011540721.1:c.-35+52A>T | XP_011539023.1:n.-35+52A>T | |
| XR_946545.1:n.2792+52A>T | ||
| NR_134980.1:n.2712+52A>T | ||
| XM_017000334.1:c.2547+52A>T | XP_016855823.1:n.2547+52A>T | |
| XM_017000335.1:c.2541+52A>T | XP_016855824.1:n.2541+52A>T | |
| XM_017000336.1:c.2547+52A>T | XP_016855825.1:n.2547+52A>T | |
| XM_017000337.1:c.945+52A>T | XP_016855826.1:n.945+52A>T | |
| NM_001854.4:c.2394+52A>T MANE Select | NP_001845.3:n.2394+52A>T | |
| NM_080630.4:c.2046+52A>T | NP_542197.3:n.2046+52A>T | |
| NR_134980.2:n.2738+52A>T | ||
| NM_001190709.2:c.2277+52A>T | NP_001177638.1:n.2277+52A>T | |
| NM_080629.3:c.2430+52A>T | NP_542196.2:n.2430+52A>T |