Linked Data
dbSNP Id:
rs60159418
gnomAD v2:
4-31120752-G-A
gnomAD v3:
4-31119130-G-A
gnomAD v4:
4-31119130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.31119130G>A , CM000666.2:g.31119130G>A | GRCh38 |
| NC_000004.11:g.31120752G>A , CM000666.1:g.31120752G>A | GRCh37 |
| NC_000004.10:g.30729850G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000511884.7:c.3368-23343G>A | ENSP00000513121.1:n.3368-23343G>A | |
| ENST00000621961.2:c.3434-23343G>A | ENSP00000484874.2:n.3434-23343G>A | |
| ENST00000695919.1:c.3392-23343G>A MANE Select | ENSP00000512266.1:n.3392-23343G>A | |
| ENST00000695920.1:c.3284-23343G>A | ENSP00000512267.1:n.3284-23343G>A | |
| ENST00000695921.1:c.3175-23343G>A | ENSP00000512268.1:n.3175-23343G>A | |
| ENST00000695922.1:c.3311-23343G>A | ENSP00000512269.2:n.3311-23343G>A | |
| ENST00000509759.2:c.384-23343G>A | ||
| ENST00000511884.6:c.2437-23343G>A | ||
| ENST00000621961.1:c.1377-23343G>A | ||
| NM_001173523.1:c.3392-23343G>A | NP_001166994.1:n.3392-23343G>A | |
| NM_032457.3:c.3368-23343G>A | NP_115833.2:n.3368-23343G>A | |
| XM_005248163.2:c.3452-23343G>A | XP_005248220.1:n.3452-23343G>A | |
| XM_005248164.2:c.3428-23343G>A | XP_005248221.1:n.3428-23343G>A | |
| XM_005248166.2:c.3175-23343G>A | XP_005248223.1:n.3175-23343G>A | |
| XM_011513842.1:c.3515-23343G>A | XP_011512144.1:n.3515-23343G>A | |
| XM_011513843.1:c.3455-23343G>A | XP_011512145.1:n.3455-23343G>A | |
| XM_011513844.1:c.*8-23343G>A | XP_011512146.1:n.*8-23343G>A | |
| XM_011513845.1:c.*8-23343G>A | XP_011512147.1:n.*8-23343G>A | |
| XM_005248163.4:c.3452-23343G>A | XP_005248220.1:n.3452-23343G>A | |
| XM_005248164.4:c.3428-23343G>A | XP_005248221.1:n.3428-23343G>A | |
| XM_005248166.4:c.3175-23343G>A | XP_005248223.1:n.3175-23343G>A | |
| XM_011513842.3:c.3515-23343G>A | XP_011512144.1:n.3515-23343G>A | |
| XM_011513843.3:c.3455-23343G>A | XP_011512145.1:n.3455-23343G>A | |
| XM_011513844.3:c.*8-23343G>A | XP_011512146.1:n.*8-23343G>A | |
| XM_017008259.2:c.3491-23343G>A | XP_016863748.1:n.3491-23343G>A | |
| XM_017008260.2:c.3485-23343G>A | XP_016863749.1:n.3485-23343G>A | |
| XM_017008261.2:c.3482-23343G>A | XP_016863750.1:n.3482-23343G>A | |
| XM_017008262.2:c.3458-23343G>A | XP_016863751.1:n.3458-23343G>A | |
| XM_017008264.2:c.*8-23343G>A | XP_016863753.1:n.*8-23343G>A | |
| XM_017008272.2:c.*8-23343G>A | XP_016863761.1:n.*8-23343G>A | |
| NM_001173523.2:c.3392-23343G>A MANE Select | NP_001166994.1:n.3392-23343G>A | |
| NM_032457.4:c.3368-23343G>A | NP_115833.2:n.3368-23343G>A |