Linked Data
dbSNP Id:
rs371130120
gnomAD v2:
4-178363440-G-C
gnomAD v3:
4-177442286-G-C
gnomAD v4:
4-177442286-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442286G>C , CM000666.2:g.177442286G>C | GRCh38 |
| NC_000004.11:g.178363440G>C , CM000666.1:g.178363440G>C | GRCh37 |
| NC_000004.10:g.178600434G>C | NCBI36 |
| NG_011845.2:g.5218C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.90C>G MANE Select | ENSP00000264595.2:p.Val30= | |
| ENST00000264595.6:c.90C>G | ENSP00000264595.2:p.Val30= | |
| ENST00000506853.5:n.124C>G | ||
| ENST00000510955.5:n.124C>G | ||
| ENST00000511231.1:n.124C>G | ||
| NM_000027.3:c.90C>G | NP_000018.2:p.Val30= | |
| NM_001171988.1:c.90C>G | NP_001165459.1:p.Val30= | |
| NR_033655.1:n.218C>G | ||
| XM_006714123.2:c.90C>G | XP_006714186.1:p.Val30= | |
| XR_001741155.2:n.184C>G | ||
| NM_000027.4:c.90C>G MANE Select | NP_000018.2:p.Val30= | |
| NM_001171988.2:c.90C>G | NP_001165459.1:p.Val30= | |
| NR_033655.2:n.152C>G |