gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1730810C>G , CM000679.2:g.1730810C>G | GRCh38 |
| NC_000017.10:g.1634104C>G , CM000679.1:g.1634104C>G | GRCh37 |
| NC_000017.9:g.1580854C>G | NCBI36 |
| NG_032811.1:g.19288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409644.6:c.3831C>G MANE Select | ENSP00000386609.1:p.Ala1277= | |
| ENST00000309182.9:c.678C>G | ENSP00000312074.5:p.Ala226= | |
| ENST00000409644.5:c.3831C>G | ENSP00000386609.1:p.Ala1277= | |
| ENST00000418841.5:c.-88-1515C>G | ENSP00000395198.1:n.-88-1515C>G | |
| ENST00000419248.5:c.150C>G | ENSP00000407845.1:p.Ala50= | |
| ENST00000437219.6:c.222C>G | ENSP00000391074.2:p.Ala74= | |
| ENST00000446363.5:c.-253C>G | ENSP00000401560.1:n.-253C>G | |
| ENST00000455636.5:c.222C>G | ENSP00000395226.1:p.Ala74= | |
| ENST00000464528.5:n.1217C>G | ||
| ENST00000468539.5:c.63-1515C>G | ENSP00000460742.1:n.63-1515C>G | |
| ENST00000474958.2:c.83C>G | ||
| ENST00000479966.1:n.340C>G | ||
| ENST00000492901.1:n.518C>G | ||
| ENST00000575206.1:c.473C>G | ||
| NM_001163673.1:c.222C>G | NP_001157145.1:p.Ala74= | |
| NM_001163809.1:c.3831C>G | NP_001157281.1:p.Ala1277= | |
| NM_001163811.1:c.150C>G | NP_001157283.1:p.Ala50= | |
| NM_152348.3:c.678C>G | NP_689561.2:p.Ala226= | |
| XM_005256454.2:c.3831C>G | XP_005256511.1:p.Ala1277= | |
| XM_011523650.1:c.3831C>G | XP_011521952.1:p.Ala1277= | |
| XM_011523651.1:c.678C>G | XP_011521953.1:p.Ala226= | |
| XR_933973.1:n.3975C>G | ||
| XM_011523651.2:c.678C>G | XP_011521953.1:p.Ala226= | |
| XM_017024184.1:c.3831C>G | XP_016879673.1:p.Ala1277= | |
| XR_001752427.1:n.3983C>G | ||
| XR_933973.2:n.3983C>G | ||
| NM_001163809.2:c.3831C>G MANE Select | NP_001157281.1:p.Ala1277= | |
| NM_001163811.2:c.150C>G | NP_001157283.1:p.Ala50= | |
| NM_152348.4:c.678C>G | NP_689561.2:p.Ala226= | |
| NM_001163673.2:c.222C>G | NP_001157145.1:p.Ala74= |