Linked Data
dbSNP Id:
rs770514690
ExAC:
4:3519909 C / A
gnomAD v2:
4-3519909-C-A
gnomAD v4:
4-3518182-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518182C>A , CM000666.2:g.3518182C>A | GRCh38 |
| NC_000004.11:g.3519909C>A , CM000666.1:g.3519909C>A | GRCh37 |
| NC_000004.10:g.3489707C>A | NCBI36 |
| NG_033873.1:g.19316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.603G>T | ENSP00000496947.1:p.Glu201Asp | |
| ENST00000650182.1:c.603G>T MANE Select | ENSP00000497444.1:p.Glu201Asp | |
| ENST00000296325.9:n.566G>T | ||
| ENST00000500728.2:c.603G>T | ENSP00000421922.1:p.Glu201Asp | |
| ENST00000509198.1:n.649G>T | ||
| ENST00000515119.5:c.*380G>T | ENSP00000421648.1:n.*380G>T | |
| NM_002337.3:c.603G>T | NP_002328.1:p.Glu201Asp | |
| NR_110005.1:n.566G>T | ||
| NM_002337.4:c.603G>T MANE Select | NP_002328.1:p.Glu201Asp | |
| XR_002959730.1:n.688G>T | ||
| NR_110005.2:n.566G>T |