Linked Data
ClinVar Variation Id:
3512
dbSNP Id:
rs121907892
ExAC:
11:64361219 G / A
gnomAD v2:
11-64361219-G-A
gnomAD v3:
11-64593747-G-A
gnomAD v4:
11-64593747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64593747G>A , CM000673.2:g.64593747G>A | GRCh38 |
| NC_000011.9:g.64361219G>A , CM000673.1:g.64361219G>A | GRCh37 |
| NC_000011.8:g.64117795G>A | NCBI36 |
| NG_008110.1:g.7938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.774G>A MANE Select | ENSP00000366797.1:p.Trp258Ter | |
| ENST00000336464.7:c.672G>A | ENSP00000336836.7:p.Trp224Ter | |
| ENST00000377567.6:c.506+865G>A | ENSP00000366790.2:n.506+865G>A | |
| ENST00000377572.5:c.506+865G>A | ENSP00000366795.1:n.506+865G>A | |
| ENST00000377574.5:c.774G>A | ENSP00000366797.1:p.Trp258Ter | |
| ENST00000473690.5:c.111G>A | ENSP00000438437.1:p.Trp37Ter | |
| NM_001276326.1:c.672G>A | NP_001263255.1:p.Trp224Ter | |
| NM_001276327.1:c.506+865G>A | NP_001263256.1:n.506+865G>A | |
| NM_144585.3:c.774G>A | NP_653186.2:p.Trp258Ter | |
| NM_153378.2:c.111G>A | NP_700357.1:p.Trp37Ter | |
| XM_006718430.2:c.849G>A | XP_006718493.1:p.Trp283Ter | |
| XM_006718431.2:c.744G>A | XP_006718494.1:p.Trp248Ter | |
| XM_006718430.4:c.849G>A | XP_006718493.1:p.Trp283Ter | |
| XM_006718431.4:c.744G>A | XP_006718494.1:p.Trp248Ter | |
| NM_144585.4:c.774G>A MANE Select | NP_653186.2:p.Trp258Ter | |
| NM_001276326.2:c.672G>A | NP_001263255.1:p.Trp224Ter | |
| NM_153378.3:c.111G>A | NP_700357.1:p.Trp37Ter | |
| NM_001276327.2:c.506+865G>A | NP_001263256.1:n.506+865G>A |