Linked Data
ClinVar Variation Id:
189076
dbSNP Id:
rs61753245
ExAC:
6:137187856 G / A
gnomAD v2:
6-137187856-G-A
gnomAD v3:
6-136866718-G-A
gnomAD v4:
6-136866718-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136866718G>A , CM000668.2:g.136866718G>A | GRCh38 |
| NC_000006.11:g.137187856G>A , CM000668.1:g.137187856G>A | GRCh37 |
| NC_000006.10:g.137229549G>A | NCBI36 |
| NG_008462.1:g.49139G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.618G>A MANE Select | ENSP00000315680.3:p.Trp206Ter | |
| ENST00000541292.6:c.618G>A | ENSP00000441004.1:p.Trp206Ter | |
| ENST00000678002.1:c.306G>A | ||
| ENST00000678557.1:c.504G>A | ENSP00000502962.1:p.Trp168Ter | |
| ENST00000678593.1:c.623G>A | ENSP00000503841.1:n.623G>A | |
| ENST00000679286.1:c.498G>A | ENSP00000503168.1:p.Trp166Ter | |
| ENST00000318471.4:c.618G>A | ENSP00000315680.3:p.Trp206Ter | |
| ENST00000541292.5:c.618G>A | ENSP00000441004.1:p.Trp206Ter | |
| NM_000288.3:c.618G>A | NP_000279.1:p.Trp206Ter | |
| XM_005267019.3:c.504G>A | XP_005267076.1:p.Trp168Ter | |
| XM_006715502.1:c.340-3172G>A | XP_006715565.1:n.340-3172G>A | |
| XM_011535900.1:c.526+20537G>A | XP_011534202.1:n.526+20537G>A | |
| XM_005267019.4:c.504G>A | XP_005267076.1:p.Trp168Ter | |
| XM_006715502.2:c.340-3172G>A | XP_006715565.1:n.340-3172G>A | |
| XM_017010934.2:c.526+20537G>A | XP_016866423.1:n.526+20537G>A | |
| NM_000288.4:c.618G>A MANE Select | NP_000279.1:p.Trp206Ter |