ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.93784669T>C , CM000673.2:g.93784669T>C | GRCh38 |
| NC_000011.9:g.93517835T>C , CM000673.1:g.93517835T>C | GRCh37 |
| NC_000011.8:g.93157483T>C | NCBI36 |
| NG_028028.1:g.5431T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251871.9:c.156T>C MANE Select | ENSP00000251871.3:p.Gly52= | |
| ENST00000507258.4:n.244T>C | ||
| ENST00000525026.6:n.377T>C | ||
| ENST00000528786.2:c.96T>C | ENSP00000433626.2:p.Gly32= | |
| ENST00000533133.6:c.156T>C | ENSP00000433090.2:p.Gly52= | |
| ENST00000638294.1:c.156T>C | ENSP00000491675.1:p.Gly52= | |
| ENST00000638487.1:c.156T>C | ENSP00000492294.1:p.Gly52= | |
| ENST00000638518.1:c.92T>C | ||
| ENST00000638767.1:c.717T>C | ENSP00000492220.1:p.Gly239= | |
| ENST00000639189.1:c.156T>C | ENSP00000491770.1:p.Gly52= | |
| ENST00000639457.1:c.156T>C | ENSP00000492391.1:p.Gly52= | |
| ENST00000639596.1:c.156T>C | ENSP00000491918.1:p.Gly52= | |
| ENST00000639724.1:c.156T>C | ENSP00000492625.1:p.Gly52= | |
| ENST00000640027.1:c.156T>C | ENSP00000492872.1:p.Gly52= | |
| ENST00000640451.1:c.156T>C | ENSP00000492530.1:p.Gly52= | |
| ENST00000640473.1:c.156T>C | ENSP00000491371.1:p.Gly52= | |
| ENST00000640521.1:c.156T>C | ENSP00000491108.1:p.Gly52= | |
| ENST00000640583.1:n.443T>C | ||
| ENST00000640804.1:n.443T>C | ||
| ENST00000251871.7:c.156T>C | ENSP00000251871.3:p.Gly52= | |
| ENST00000530819.1:c.156T>C | ENSP00000434459.1:p.Gly52= | |
| ENST00000533133.5:c.156T>C | ENSP00000433090.1:p.Gly52= | |
| ENST00000533359.5:c.156T>C | ENSP00000431524.1:p.Gly52= | |
| NM_004268.4:c.156T>C | NP_004259.3:p.Gly52= | |
| XM_011543068.1:c.156T>C | XP_011541370.1:p.Gly52= | |
| XR_247218.1:n.390T>C | ||
| XR_947872.1:n.390T>C | ||
| NM_004268.5:c.156T>C MANE Select | NP_004259.3:p.Gly52= |