Linked Data
dbSNP Id:
rs1136511
ExAC:
4:70898903 G / A
gnomAD v2:
4-70898903-G-A
gnomAD v3:
4-70033186-G-A
gnomAD v4:
4-70033186-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70033186G>A , CM000666.2:g.70033186G>A | GRCh38 |
| NC_000004.11:g.70898903G>A , CM000666.1:g.70898903G>A | GRCh37 |
| NC_000004.10:g.70933492G>A | NCBI36 |
| NG_012279.1:g.9774G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673563.1:c.122G>A MANE Select | ENSP00000500623.1:p.Arg41Gln | |
| ENST00000381057.3:c.92G>A | ENSP00000370445.3:p.Arg31Gln | |
| ENST00000526767.5:c.122G>A | ENSP00000437158.1:p.Arg41Gln | |
| ENST00000529625.5:n.271G>A | ||
| ENST00000530128.5:c.122G>A | ENSP00000432561.1:p.Arg41Gln | |
| ENST00000533547.5:n.271G>A | ||
| NM_000200.2:c.122G>A | NP_000191.1:p.Arg41Gln | |
| NM_000200.3:c.122G>A MANE Select | NP_000191.1:p.Arg41Gln |