Linked Data
ClinVar Variation Id:
2783091
ClinVar RCV Id:
RCV003626968
dbSNP Id:
rs1461167778
gnomAD v3:
13-48477403-G-A
gnomAD v4:
13-48477403-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48477403G>A , CM000675.2:g.48477403G>A | GRCh38 |
| NC_000013.10:g.49051539G>A , CM000675.1:g.49051539G>A | GRCh37 |
| NC_000013.9:g.47949540G>A | NCBI36 |
| NG_009009.1:g.178657G>A , LRG_517:g.178657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2712G>A MANE Select | ENSP00000267163.4:p.Met904Ile | |
| ENST00000643064.1:c.194+95960G>A | ||
| ENST00000650461.1:c.2712G>A | ENSP00000497193.1:p.Met904Ile | |
| ENST00000267163.4:c.2712G>A | ENSP00000267163.4:p.Met904Ile | |
| ENST00000484879.1:n.446G>A | ||
| ENST00000531171.5:n.315G>A | ||
| NM_000321.2:c.2712G>A , LRG_517t1:c.2712G>A | NP_000312.2:p.Met904Ile | |
| XM_011535171.1:c.2451G>A | XP_011533473.1:p.Met817Ile | |
| XM_011535171.2:c.2451G>A | XP_011533473.1:p.Met817Ile | |
| NM_000321.3:c.2712G>A MANE Select | NP_000312.2:p.Met904Ile |