Linked Data
dbSNP Id:
rs773775312
ExAC:
4:3519803 G / T
gnomAD v2:
4-3519803-G-T
gnomAD v3:
4-3518076-G-T
gnomAD v4:
4-3518076-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518076G>T , CM000666.2:g.3518076G>T | GRCh38 |
| NC_000004.11:g.3519803G>T , CM000666.1:g.3519803G>T | GRCh37 |
| NC_000004.10:g.3489601G>T | NCBI36 |
| NG_033873.1:g.19422C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.709C>A | ENSP00000496947.1:p.Arg237Ser | |
| ENST00000650182.1:c.709C>A MANE Select | ENSP00000497444.1:p.Arg237Ser | |
| ENST00000296325.9:n.672C>A | ||
| ENST00000500728.2:c.709C>A | ENSP00000421922.1:p.Arg237Ser | |
| ENST00000509198.1:n.755C>A | ||
| ENST00000515119.5:c.*486C>A | ENSP00000421648.1:n.*486C>A | |
| NM_002337.3:c.709C>A | NP_002328.1:p.Arg237Ser | |
| NR_110005.1:n.672C>A | ||
| NM_002337.4:c.709C>A MANE Select | NP_002328.1:p.Arg237Ser | |
| XR_002959730.1:n.794C>A | ||
| NR_110005.2:n.672C>A |