Linked Data
dbSNP Id:
rs909765185
gnomAD v2:
12-32949497-T-A
gnomAD v3:
12-32796563-T-A
gnomAD v4:
12-32796563-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796563T>A , CM000674.2:g.32796563T>A | GRCh38 |
| NC_000012.11:g.32949497T>A , CM000674.1:g.32949497T>A | GRCh37 |
| NC_000012.10:g.32840764T>A | NCBI36 |
| NG_009000.1:g.105284A>T , LRG_398:g.105284A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.671-265A>T | ||
| ENST00000700557.2:n.260-265A>T | ||
| ENST00000700559.2:c.2168-3832A>T | ENSP00000515065.2:n.2168-3832A>T | |
| ENST00000546498.2:n.855-265A>T | ||
| ENST00000549461.2:n.660-265A>T | ||
| ENST00000700555.1:c.599-265A>T | ENSP00000515062.1:n.599-265A>T | |
| ENST00000700556.1:c.639-265A>T | ||
| ENST00000700557.1:c.179-265A>T | ENSP00000515064.1:n.179-265A>T | |
| ENST00000700558.1:n.382-265A>T | ||
| ENST00000700559.1:c.1383-3832A>T | ||
| ENST00000700560.1:n.1383-265A>T | ||
| ENST00000700561.1:n.1509-265A>T | ||
| ENST00000070846.11:c.2300-265A>T | ENSP00000070846.6:n.2300-265A>T | |
| ENST00000340811.9:c.2168-265A>T MANE Select | ENSP00000342800.5:n.2168-265A>T | |
| ENST00000070846.10:c.2300-265A>T | ENSP00000070846.6:n.2300-265A>T | |
| ENST00000340811.8:c.2168-265A>T | ENSP00000342800.4:n.2168-265A>T | |
| ENST00000613243.1:c.2300-265A>T | ENSP00000478295.1:n.2300-265A>T | |
| NM_001005242.2:c.2168-265A>T | NP_001005242.2:n.2168-265A>T | |
| NM_004572.3:c.2300-265A>T , LRG_398t1:c.2300-265A>T | NP_004563.2:n.2300-265A>T | |
| NM_001005242.3:c.2168-265A>T MANE Select | NP_001005242.2:n.2168-265A>T | |
| NM_004572.4:c.2300-265A>T | NP_004563.2:n.2300-265A>T |