Linked Data
dbSNP Id:
rs760172937
ExAC:
9:136536721 C / T
gnomAD v2:
9-136536721-C-T
gnomAD v4:
9-133671599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133671599C>T , CM000671.2:g.133671599C>T | GRCh38 |
| NC_000009.11:g.136536721C>T , CM000671.1:g.136536721C>T | GRCh37 |
| NC_000009.10:g.135526542C>T | NCBI36 |
| NG_008987.1:g.73357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.2262G>A MANE Select | ENSP00000403084.1:p.Ala754= | |
| ENST00000371868.5:c.546G>A | ENSP00000360934.1:p.Ala182= | |
| ENST00000371872.8:c.2262G>A | ENSP00000360938.4:p.Ala754= | |
| ENST00000422262.6:c.1422G>A | ENSP00000415537.3:p.Ala474= | |
| ENST00000439388.5:c.2262G>A | ENSP00000403084.1:p.Ala754= | |
| NM_001134707.1:c.2262G>A | NP_001128179.1:p.Ala754= | |
| NM_007101.3:c.2262G>A | NP_009032.2:p.Ala754= | |
| XM_006716990.2:c.2262G>A | XP_006717053.1:p.Ala754= | |
| XM_011518333.1:c.2262G>A | XP_011516635.1:p.Ala754= | |
| XR_929726.1:n.2429G>A | ||
| XR_929727.1:n.2429G>A | ||
| XR_929728.1:n.2429G>A | ||
| XM_017014367.1:c.2262G>A | XP_016869856.1:p.Ala754= | |
| XM_017014368.1:c.2262G>A | XP_016869857.1:p.Ala754= | |
| XR_001746213.1:n.2558G>A | ||
| XR_001746214.1:n.3741G>A | ||
| XR_001746215.1:n.2560G>A | ||
| XR_001746216.1:n.2558G>A | ||
| XR_001746217.1:n.2558G>A | ||
| XR_001746218.1:n.2410G>A | ||
| XR_002956762.1:n.2514G>A | ||
| XR_929726.2:n.2429G>A | ||
| NM_001134707.2:c.2262G>A MANE Select | NP_001128179.1:p.Ala754= | |
| NM_007101.4:c.2262G>A | NP_009032.2:p.Ala754= |