Linked Data
dbSNP Id:
rs200841602
ExAC:
4:160262676 T / G
gnomAD v2:
4-160262676-T-G
gnomAD v3:
4-159341524-T-G
gnomAD v4:
4-159341524-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.159341524T>G , CM000666.2:g.159341524T>G | GRCh38 |
| NC_000004.11:g.160262676T>G , CM000666.1:g.160262676T>G | GRCh37 |
| NC_000004.10:g.160482126T>G | NCBI36 |
| NG_063926.1:g.242456T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505026.2:c.2052-40T>G | ENSP00000516108.1:n.2052-40T>G | |
| ENST00000691494.1:c.2535-40T>G MANE Select | ENSP00000510694.1:n.2535-40T>G | |
| ENST00000644474.1:c.2517-40T>G | ENSP00000495906.1:n.2517-40T>G | |
| ENST00000644902.1:c.2181-40T>G | ENSP00000495298.1:n.2181-40T>G | |
| ENST00000264431.8:c.2052-40T>G | ENSP00000264431.4:n.2052-40T>G | |
| NM_014247.2:c.2052-40T>G | NP_055062.1:n.2052-40T>G | |
| XM_005263358.2:c.2535-40T>G | XP_005263415.1:n.2535-40T>G | |
| XM_005263359.2:c.2535-40T>G | XP_005263416.1:n.2535-40T>G | |
| XM_005263360.2:c.2535-40T>G | XP_005263417.1:n.2535-40T>G | |
| XM_005263361.2:c.2517-40T>G | XP_005263418.1:n.2517-40T>G | |
| XM_006714420.2:c.2517-40T>G | XP_006714483.1:n.2517-40T>G | |
| XM_006714421.2:c.2535-40T>G | XP_006714484.1:n.2535-40T>G | |
| XM_006714422.2:c.2187-40T>G | XP_006714485.1:n.2187-40T>G | |
| XM_011532425.1:c.2199-40T>G | XP_011530727.1:n.2199-40T>G | |
| XM_011532426.1:c.2187-40T>G | XP_011530728.1:n.2187-40T>G | |
| XM_011532427.1:c.2052-40T>G | XP_011530729.1:n.2052-40T>G | |
| NM_001351724.1:c.2535-40T>G | NP_001338653.1:n.2535-40T>G | |
| NM_001351725.1:c.2187-40T>G | NP_001338654.1:n.2187-40T>G | |
| NM_001351726.1:c.2187-40T>G | NP_001338655.1:n.2187-40T>G | |
| NM_001351727.1:c.2052-40T>G | NP_001338656.1:n.2052-40T>G | |
| NM_001351728.1:c.2052-40T>G | NP_001338657.1:n.2052-40T>G | |
| XM_005263358.3:c.2535-40T>G | XP_005263415.1:n.2535-40T>G | |
| XM_005263359.4:c.2535-40T>G | XP_005263416.1:n.2535-40T>G | |
| XM_005263360.3:c.2535-40T>G | XP_005263417.1:n.2535-40T>G | |
| XM_005263361.3:c.2517-40T>G | XP_005263418.1:n.2517-40T>G | |
| XM_006714420.3:c.2517-40T>G | XP_006714483.1:n.2517-40T>G | |
| XM_006714422.4:c.2187-40T>G | XP_006714485.1:n.2187-40T>G | |
| XM_011532425.2:c.2199-40T>G | XP_011530727.1:n.2199-40T>G | |
| XM_011532426.2:c.2187-40T>G | XP_011530728.1:n.2187-40T>G | |
| XM_017008856.2:c.2535-40T>G | XP_016864345.1:n.2535-40T>G | |
| XM_024454286.1:c.2169-40T>G | XP_024310054.1:n.2169-40T>G | |
| XM_024454287.1:c.2169-40T>G | XP_024310055.1:n.2169-40T>G | |
| NM_001351724.2:c.2535-40T>G | NP_001338653.1:n.2535-40T>G | |
| NM_001351727.2:c.2052-40T>G | NP_001338656.1:n.2052-40T>G | |
| NM_001351728.2:c.2052-40T>G | NP_001338657.1:n.2052-40T>G | |
| NM_014247.3:c.2052-40T>G | NP_055062.1:n.2052-40T>G | |
| NM_001351724.4:c.2535-40T>G | NP_001338653.1:n.2535-40T>G | |
| NM_001351725.2:c.2187-40T>G | NP_001338654.1:n.2187-40T>G | |
| NM_001351726.3:c.2187-40T>G | NP_001338655.1:n.2187-40T>G | |
| NM_001351727.4:c.2052-40T>G | NP_001338656.1:n.2052-40T>G | |
| NM_001351728.4:c.2052-40T>G | NP_001338657.1:n.2052-40T>G | |
| NM_001394067.1:c.2535-40T>G | NP_001380996.1:n.2535-40T>G | |
| NM_014247.5:c.2052-40T>G | NP_055062.1:n.2052-40T>G | |
| NM_001351724.5:c.2535-40T>G | NP_001338653.1:n.2535-40T>G | |
| NM_001394067.2:c.2535-40T>G MANE Select | NP_001380996.1:n.2535-40T>G |