Linked Data
dbSNP Id:
rs767136348
ExAC:
3:10188199 T / A
gnomAD v2:
3-10188199-T-A
gnomAD v4:
3-10146515-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146515T>A , CM000665.2:g.10146515T>A | GRCh38 |
| NC_000003.11:g.10188199T>A , CM000665.1:g.10188199T>A | GRCh37 |
| NC_000003.10:g.10163199T>A | NCBI36 |
| NG_008212.3:g.9881T>A , LRG_322:g.9881T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*19T>A | ENSP00000512434.1:n.*19T>A | |
| ENST00000696143.1:c.600-3272T>A | ENSP00000512435.1:n.600-3272T>A | |
| ENST00000696153.1:c.342T>A | ENSP00000512444.1:p.Gly114= | |
| ENST00000256474.3:c.342T>A MANE Select | ENSP00000256474.3:p.Gly114= | |
| ENST00000256474.2:c.342T>A | ENSP00000256474.2:p.Gly114= | |
| ENST00000345392.2:c.341-3272T>A | ENSP00000344757.2:n.341-3272T>A | |
| ENST00000477538.1:n.478T>A | ||
| NM_000551.3:c.342T>A , LRG_322t1:c.342T>A | NP_000542.1:p.Gly114= | |
| NM_198156.2:c.341-3272T>A | NP_937799.1:n.341-3272T>A | |
| XM_011534078.1:c.*19T>A | XP_011532380.1:n.*19T>A | |
| NM_001354723.1:c.*18-3272T>A | NP_001341652.1:n.*18-3272T>A | |
| NM_000551.4:c.342T>A MANE Select | NP_000542.1:p.Gly114= | |
| NM_001354723.2:c.*18-3272T>A | NP_001341652.1:n.*18-3272T>A | |
| NM_198156.3:c.341-3272T>A | NP_937799.1:n.341-3272T>A |