Linked Data
dbSNP Id:
rs763095137
ExAC:
4:111542483 G / C
gnomAD v2:
4-111542483-G-C
gnomAD v4:
4-110621327-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110621327G>C , CM000666.2:g.110621327G>C | GRCh38 |
| NC_000004.11:g.111542483G>C , CM000666.1:g.111542483G>C | GRCh37 |
| NC_000004.10:g.111761932G>C | NCBI36 |
| NG_007120.1:g.21026C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613094.5:c.185-2639C>G | ENSP00000484763.2:n.185-2639C>G | |
| ENST00000614423.5:c.146C>G | ENSP00000481951.2:p.Ala49Gly | |
| ENST00000616641.5:n.214C>G | ||
| ENST00000644488.2:n.218C>G | ||
| ENST00000394595.8:c.227C>G | ENSP00000378095.4:p.Ala76Gly | |
| ENST00000644488.1:n.290C>G | ||
| ENST00000644743.1:c.248C>G MANE Select | ENSP00000495061.1:p.Ala83Gly | |
| ENST00000645131.1:n.179C>G | ||
| ENST00000306732.7:c.248C>G | ENSP00000304169.3:p.Ala83Gly | |
| ENST00000354925.6:c.227C>G | ENSP00000347004.2:p.Ala76Gly | |
| ENST00000355080.9:c.89C>G | ENSP00000347192.5:p.Ala30Gly | |
| ENST00000394595.7:c.185-2639C>G | ENSP00000378095.3:n.185-2639C>G | |
| ENST00000394598.6:c.227C>G | ENSP00000378097.2:p.Ala76Gly | |
| ENST00000511837.5:c.227C>G | ENSP00000421454.1:p.Ala76Gly | |
| ENST00000511990.1:c.89C>G | ENSP00000424142.1:p.Ala30Gly | |
| ENST00000557119.2:c.248C>G | ENSP00000475617.1:p.Ala83Gly | |
| ENST00000613094.4:c.227C>G | ENSP00000484763.1:p.Ala76Gly | |
| ENST00000614423.4:c.227C>G | ENSP00000481951.1:p.Ala76Gly | |
| ENST00000616641.4:c.89C>G | ENSP00000484909.1:p.Ala30Gly | |
| NM_000325.5:c.248C>G | NP_000316.2:p.Ala83Gly | |
| NM_001204397.1:c.227C>G | NP_001191326.1:p.Ala76Gly | |
| NM_001204398.1:c.227C>G | NP_001191327.1:p.Ala76Gly | |
| NM_001204399.1:c.89C>G | NP_001191328.1:p.Ala30Gly | |
| NM_153426.2:c.227C>G | NP_700475.1:p.Ala76Gly | |
| NM_153427.2:c.89C>G | NP_700476.1:p.Ala30Gly | |
| XM_006714235.2:c.227C>G | XP_006714298.1:p.Ala76Gly | |
| XM_011532027.1:c.89C>G | XP_011530329.1:p.Ala30Gly | |
| XM_024454090.1:c.-107C>G | XP_024309858.1:n.-107C>G | |
| NM_000325.6:c.248C>G MANE Select | NP_000316.2:p.Ala83Gly | |
| NM_001204397.2:c.227C>G | NP_001191326.1:p.Ala76Gly | |
| NM_153426.3:c.227C>G | NP_700475.1:p.Ala76Gly | |
| NM_153427.3:c.89C>G | NP_700476.1:p.Ala30Gly |