Linked Data
dbSNP Id:
rs773851296
gnomAD v2:
12-33031916-A-T
gnomAD v3:
12-32878982-A-T
gnomAD v4:
12-32878982-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878982A>T , CM000674.2:g.32878982A>T | GRCh38 |
| NC_000012.11:g.33031916A>T , CM000674.1:g.33031916A>T | GRCh37 |
| NC_000012.10:g.32923183A>T | NCBI36 |
| NG_009000.1:g.22865T>A , LRG_398:g.22865T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.274T>A | ENSP00000515065.2:p.Leu92Met | |
| ENST00000700563.2:c.274T>A | ENSP00000515066.2:p.Leu92Met | |
| ENST00000700563.1:c.228T>A | ||
| ENST00000700564.1:n.278T>A | ||
| ENST00000700565.1:n.127T>A | ||
| ENST00000070846.11:c.274T>A | ENSP00000070846.6:p.Leu92Met | |
| ENST00000340811.9:c.274T>A MANE Select | ENSP00000342800.5:p.Leu92Met | |
| ENST00000070846.10:c.274T>A | ENSP00000070846.6:p.Leu92Met | |
| ENST00000340811.8:c.274T>A | ENSP00000342800.4:p.Leu92Met | |
| ENST00000613243.1:c.274T>A | ENSP00000478295.1:p.Leu92Met | |
| NM_001005242.2:c.274T>A | NP_001005242.2:p.Leu92Met | |
| NM_004572.3:c.274T>A , LRG_398t1:c.274T>A | NP_004563.2:p.Leu92Met | |
| NM_001005242.3:c.274T>A MANE Select | NP_001005242.2:p.Leu92Met | |
| NM_004572.4:c.274T>A | NP_004563.2:p.Leu92Met |