Linked Data
ClinVar Variation Id:
407300
ClinVar RCV Id:
RCV000461675
dbSNP Id:
rs766256391
ExAC:
6:38850693 G / A
gnomAD v2:
6-38850693-G-A
gnomAD v3:
6-38882917-G-A
gnomAD v4:
6-38882917-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38882917G>A , CM000668.2:g.38882917G>A | GRCh38 |
| NC_000006.11:g.38850693G>A , CM000668.1:g.38850693G>A | GRCh37 |
| NC_000006.10:g.38958671G>A | NCBI36 |
| NG_041805.1:g.172577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.7866G>A MANE Select | ENSP00000333363.7:p.Trp2622Ter | |
| ENST00000327475.10:c.7866G>A | ENSP00000333363.7:p.Trp2622Ter | |
| ENST00000359357.7:c.7215G>A | ENSP00000352312.3:p.Trp2405Ter | |
| ENST00000449981.6:c.7866G>A | ENSP00000415331.2:p.Trp2622Ter | |
| NM_001206927.1:c.7866G>A | NP_001193856.1:p.Trp2622Ter | |
| XM_011514318.1:c.7803G>A | XP_011512620.1:p.Trp2601Ter | |
| XM_011514319.1:c.7758G>A | XP_011512621.1:p.Trp2586Ter | |
| XM_011514320.1:c.7629G>A | XP_011512622.1:p.Trp2543Ter | |
| XM_011514321.1:c.7215G>A | XP_011512623.1:p.Trp2405Ter | |
| XM_011514322.1:c.7628G>A | XP_011512624.1:p.Gly2543Glu | |
| XR_926078.1:n.7983G>A | ||
| NM_001371.3:c.7215G>A | NP_001362.2:p.Trp2405Ter | |
| XM_011514318.2:c.7803G>A | XP_011512620.1:p.Trp2601Ter | |
| XM_011514319.2:c.7758G>A | XP_011512621.1:p.Trp2586Ter | |
| XM_011514320.2:c.7629G>A | XP_011512622.1:p.Trp2543Ter | |
| XM_017010325.1:c.7866G>A | XP_016865814.1:p.Trp2622Ter | |
| XM_017010326.1:c.7866G>A | XP_016865815.1:p.Trp2622Ter | |
| XM_017010327.1:c.7866G>A | XP_016865816.1:p.Trp2622Ter | |
| XR_001743188.1:n.7749G>A | ||
| XR_926078.2:n.7986G>A | ||
| NM_001206927.2:c.7866G>A MANE Select | NP_001193856.1:p.Trp2622Ter | |
| NM_001371.4:c.7215G>A | NP_001362.2:p.Trp2405Ter |