Linked Data
dbSNP Id:
rs767495129
ExAC:
4:46995430 G / C
gnomAD v2:
4-46995430-G-C
gnomAD v4:
4-46993413-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46993413G>C , CM000666.2:g.46993413G>C | GRCh38 |
| NC_000004.11:g.46995430G>C , CM000666.1:g.46995430G>C | GRCh37 |
| NC_000004.10:g.46690187G>C | NCBI36 |
| NG_011809.1:g.5151C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264318.4:c.12C>G MANE Select | ENSP00000264318.3:p.Ala4= | |
| ENST00000264318.3:c.12C>G | ENSP00000264318.3:p.Ala4= | |
| ENST00000502874.1:c.12C>G | ENSP00000424386.1:p.Ala4= | |
| ENST00000508560.5:c.12C>G | ENSP00000425445.1:p.Ala4= | |
| ENST00000509316.1:n.136C>G | ||
| ENST00000511523.5:c.12C>G | ENSP00000422152.1:p.Ala4= | |
| NM_000809.3:c.12C>G | NP_000800.2:p.Ala4= | |
| NM_001204266.1:c.23C>G | NP_001191195.1:p.Pro8Arg | |
| NM_001204267.1:c.23C>G | NP_001191196.1:p.Pro8Arg | |
| XM_011513677.1:c.12C>G | XP_011511979.1:p.Ala4= | |
| NM_000809.4:c.12C>G MANE Select | NP_000800.2:p.Ala4= | |
| NM_001204266.2:c.23C>G | NP_001191195.1:p.Pro8Arg | |
| NM_001204267.2:c.23C>G | NP_001191196.1:p.Pro8Arg |