Linked Data
dbSNP Id:
rs745877067
ExAC:
17:42331981 C / T
gnomAD v2:
17-42331981-C-T
gnomAD v3:
17-44254613-C-T
gnomAD v4:
17-44254613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44254613C>T , CM000679.2:g.44254613C>T | GRCh38 |
| NC_000017.10:g.42331981C>T , CM000679.1:g.42331981C>T | GRCh37 |
| NC_000017.9:g.39687507C>T | NCBI36 |
| NG_007498.1:g.18522G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.1940G>A MANE Select | ENSP00000262418.6:p.Gly647Asp | |
| ENST00000262418.10:c.1940G>A | ENSP00000262418.6:p.Gly647Asp | |
| ENST00000399246.3:c.842G>A | ENSP00000382190.3:p.Gly281Asp | |
| NM_000342.3:c.1940G>A | NP_000333.1:p.Gly647Asp | |
| XM_005257593.3:c.1745G>A | XP_005257650.1:p.Gly582Asp | |
| XM_011525129.1:c.1850G>A | XP_011523431.1:p.Gly617Asp | |
| XM_011525130.1:c.1940G>A | XP_011523432.1:p.Gly647Asp | |
| XM_011525131.1:c.1940G>A | XP_011523433.1:p.Gly647Asp | |
| XM_005257593.5:c.1745G>A | XP_005257650.1:p.Gly582Asp | |
| XM_011525129.2:c.1850G>A | XP_011523431.1:p.Gly617Asp | |
| NM_000342.4:c.1940G>A MANE Select | NP_000333.1:p.Gly647Asp |