Linked Data
dbSNP Id:
rs8176059
ExAC:
7:142651354 G / A
gnomAD v2:
7-142651354-G-A
gnomAD v3:
7-142954267-G-A
gnomAD v4:
7-142954267-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954267G>A , CM000669.2:g.142954267G>A | GRCh38 |
| NC_000007.13:g.142651354G>A , CM000669.1:g.142651354G>A | GRCh37 |
| NC_000007.12:g.142361476G>A | NCBI36 |
| NG_007492.1:g.13150C>T | |
| NG_007492.2:g.13150C>T | |
| NG_007492.3:g.13150C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355265.7:c.841C>T MANE Select | ENSP00000347409.2:p.Arg281Trp | |
| ENST00000355265.6:c.841C>T | ENSP00000347409.2:p.Arg281Trp | |
| ENST00000479768.6:n.959C>T | ||
| NM_000420.2:c.841C>T | NP_000411.1:p.Arg281Trp | |
| XM_005249993.2:c.877C>T | XP_005250050.1:p.Arg293Trp | |
| XM_005249994.3:c.-107C>T | XP_005250051.1:n.-107C>T | |
| NM_000420.3:c.841C>T MANE Select | NP_000411.1:p.Arg281Trp |