Linked Data
dbSNP Id:
rs754735275
ExAC:
16:31004490 G / T
gnomAD v2:
16-31004490-G-T
gnomAD v4:
16-30993169-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993169G>T , CM000678.2:g.30993169G>T | GRCh38 |
| NC_000016.9:g.31004490G>T , CM000678.1:g.31004490G>T | GRCh37 |
| NC_000016.8:g.30911991G>T | NCBI36 |
| NG_041829.1:g.22340C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.747C>A MANE Select | ENSP00000215095.5:p.Asp249Glu | |
| ENST00000565419.2:c.747C>A | ENSP00000455899.1:p.Asp249Glu | |
| ENST00000215095.9:c.747C>A | ENSP00000215095.5:p.Asp249Glu | |
| ENST00000565419.1:c.747C>A | ENSP00000455899.1:p.Asp249Glu | |
| ENST00000569638.5:c.495C>A | ENSP00000457067.1:p.Asp165Glu | |
| NM_052874.4:c.747C>A | NP_443106.1:p.Asp249Glu | |
| XM_017022893.1:c.729C>A | XP_016878382.1:p.Asp243Glu | |
| NM_052874.5:c.747C>A MANE Select | NP_443106.1:p.Asp249Glu |