Linked Data
dbSNP Id:
rs368164077
ExAC:
17:39023400 G / A
gnomAD v2:
17-39023400-G-A
gnomAD v3:
17-40867148-G-A
gnomAD v4:
17-40867148-G-A
COSMIC:
COSM1241359
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867148G>A , CM000679.2:g.40867148G>A | GRCh38 |
| NC_000017.10:g.39023400G>A , CM000679.1:g.39023400G>A | GRCh37 |
| NC_000017.9:g.36276926G>A | NCBI36 |
| NG_008077.1:g.5063C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251643.5:c.39C>T MANE Select | ENSP00000251643.4:p.Arg13= | |
| ENST00000647902.1:c.39C>T | ENSP00000497770.1:p.Arg13= | |
| ENST00000251643.4:c.39C>T | ENSP00000251643.4:p.Arg13= | |
| NM_000223.3:c.39C>T | NP_000214.1:p.Arg13= | |
| XR_934754.1:n.1500+16288G>A | ||
| XR_934754.2:n.2008+16288G>A | ||
| NM_000223.4:c.39C>T MANE Select | NP_000214.1:p.Arg13= |