Linked Data
ClinVar Variation Id:
16618
dbSNP Id:
rs121918404
ExAC:
17:4859921 G / A
gnomAD v2:
17-4859921-G-A
gnomAD v3:
17-4956626-G-A
gnomAD v4:
17-4956626-G-A
PubMed:
PMID:11506403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4956626G>A , CM000679.2:g.4956626G>A | GRCh38 |
| NC_000017.10:g.4859921G>A , CM000679.1:g.4859921G>A | GRCh37 |
| NC_000017.9:g.4800645G>A | NCBI36 |
| NG_012063.2:g.15536G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519602.6:c.1121G>A MANE Select | ENSP00000430055.2:p.Gly374Glu | |
| ENST00000323997.10:c.1121G>A | ENSP00000324105.6:p.Gly374Glu | |
| ENST00000518175.1:c.1121G>A | ENSP00000431087.1:p.Gly374Glu | |
| ENST00000519584.5:c.992G>A | ENSP00000430636.1:p.Gly331Glu | |
| ENST00000522425.5:n.398G>A | ||
| ENST00000522954.1:n.460G>A | ||
| NM_001193503.1:c.992G>A | NP_001180432.1:p.Gly331Glu | |
| NM_001976.4:c.1121G>A | NP_001967.3:p.Gly374Glu | |
| NM_053013.3:c.1121G>A | NP_443739.3:p.Gly374Glu | |
| XM_005256521.2:c.1148G>A | XP_005256578.1:p.Gly383Glu | |
| XM_011523729.1:c.1121G>A | XP_011522031.1:p.Gly374Glu | |
| XM_017024346.2:c.1121G>A | XP_016879835.1:p.Gly374Glu | |
| NM_001193503.2:c.992G>A | NP_001180432.1:p.Gly331Glu | |
| NM_001374523.1:c.1121G>A | NP_001361452.1:p.Gly374Glu | |
| NM_001374524.1:c.1148G>A | NP_001361453.1:p.Gly383Glu | |
| NM_001976.5:c.1121G>A | NP_001967.3:p.Gly374Glu | |
| NM_053013.4:c.1121G>A MANE Select | NP_443739.3:p.Gly374Glu |