Linked Data
dbSNP Id:
rs755723894
ExAC:
19:46307636 C / G
gnomAD v2:
19-46307636-C-G
gnomAD v4:
19-45804378-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804378C>G , CM000681.2:g.45804378C>G | GRCh38 |
| NC_000019.9:g.46307636C>G , CM000681.1:g.46307636C>G | GRCh37 |
| NC_000019.8:g.50999476C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1527G>C MANE Select | ENSP00000221538.2:p.Glu509Asp | |
| ENST00000221538.7:c.1527G>C | ENSP00000221538.2:p.Glu509Asp | |
| ENST00000597055.1:c.1527G>C | ENSP00000472630.1:p.Glu509Asp | |
| ENST00000600188.5:c.735G>C | ENSP00000471559.1:p.Glu245Asp | |
| NM_030785.3:c.1527G>C | NP_110412.1:p.Glu509Asp | |
| XM_011527351.1:c.1527G>C | XP_011525653.1:p.Glu509Asp | |
| XM_011527351.2:c.1527G>C | XP_011525653.1:p.Glu509Asp | |
| NM_030785.4:c.1527G>C MANE Select | NP_110412.1:p.Glu509Asp |