Linked Data
dbSNP Id:
rs764419171
ExAC:
5:74893597 T / A
gnomAD v2:
5-74893597-T-A
gnomAD v3:
5-75597772-T-A
gnomAD v4:
5-75597772-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75597772T>A , CM000667.2:g.75597772T>A | GRCh38 |
| NC_000005.9:g.74893597T>A , CM000667.1:g.74893597T>A | GRCh37 |
| NC_000005.8:g.74929353T>A | NCBI36 |
| NG_051590.1:g.91023T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241436.9:c.2511T>A MANE Select | ENSP00000241436.4:p.Ala837= | |
| ENST00000241436.8:c.2511T>A | ENSP00000241436.4:p.Ala837= | |
| ENST00000502567.1:n.356T>A | ||
| ENST00000503479.6:c.*1034T>A | ENSP00000421997.2:n.*1034T>A | |
| ENST00000504026.5:c.1382T>A | ENSP00000425075.1:p.Leu461Gln | |
| ENST00000505069.1:n.91T>A | ||
| ENST00000505975.5:c.2625T>A | ENSP00000424859.1:n.2625T>A | |
| ENST00000506928.5:n.2634T>A | ||
| ENST00000508526.5:c.1917T>A | ENSP00000426853.1:p.Ala639= | |
| ENST00000509126.2:c.2339T>A | ENSP00000423532.1:n.2339T>A | |
| ENST00000510815.6:c.*1034T>A | ENSP00000422094.2:n.*1034T>A | |
| ENST00000511527.5:c.1496T>A | ENSP00000420997.1:n.1496T>A | |
| ENST00000514141.5:c.*1130T>A | ENSP00000423526.1:n.*1130T>A | |
| NM_016218.2:c.2511T>A | NP_057302.1:p.Ala837= | |
| XM_005248534.3:c.2553T>A | XP_005248591.1:p.Ala851= | |
| XM_006714652.2:c.1266T>A | XP_006714715.1:p.Ala422= | |
| XM_011543463.1:c.2553T>A | XP_011541765.1:p.Ala851= | |
| XM_011543464.1:c.2553T>A | XP_011541766.1:p.Ala851= | |
| XM_011543465.1:c.2553T>A | XP_011541767.1:p.Ala851= | |
| XM_011543466.1:c.2553T>A | XP_011541768.1:p.Ala851= | |
| XM_011543467.1:c.2283T>A | XP_011541769.1:p.Ala761= | |
| XR_241784.1:n.2519T>A | ||
| XR_948273.1:n.2703T>A | ||
| NM_001345921.1:c.2313T>A | NP_001332850.1:p.Ala771= | |
| NM_001345922.1:c.2241T>A | NP_001332851.1:p.Ala747= | |
| NM_016218.3:c.2511T>A | NP_057302.1:p.Ala837= | |
| NR_144315.1:n.2517T>A | ||
| XM_005248534.5:c.2553T>A | XP_005248591.1:p.Ala851= | |
| XM_006714652.4:c.1266T>A | XP_006714715.1:p.Ala422= | |
| XM_011543463.3:c.2553T>A | XP_011541765.1:p.Ala851= | |
| XM_011543464.3:c.2553T>A | XP_011541766.1:p.Ala851= | |
| XM_011543467.3:c.2283T>A | XP_011541769.1:p.Ala761= | |
| XM_017009559.2:c.2511T>A | XP_016865048.1:p.Ala837= | |
| XM_017009560.2:c.2511T>A | XP_016865049.1:p.Ala837= | |
| XM_017009561.2:c.2355T>A | XP_016865050.1:p.Ala785= | |
| XM_017009563.2:c.2241T>A | XP_016865052.1:p.Ala747= | |
| XR_001742105.2:n.3001T>A | ||
| XR_001742107.2:n.3085T>A | ||
| XR_001742108.2:n.2619T>A | ||
| XR_241784.3:n.3043T>A | ||
| XR_948273.3:n.2703T>A | ||
| NM_001345921.2:c.2313T>A | NP_001332850.1:p.Ala771= | |
| NM_001345922.2:c.2241T>A | NP_001332851.1:p.Ala747= | |
| NM_001387110.2:c.2502T>A | NP_001374039.1:p.Ala834= | |
| NM_001387111.2:c.2553T>A | NP_001374040.1:p.Ala851= | |
| NM_001387113.2:c.2511T>A | NP_001374042.1:p.Ala837= | |
| NM_016218.5:c.2511T>A | NP_057302.1:p.Ala837= | |
| NR_144315.2:n.2376T>A | ||
| NR_170559.2:n.2365T>A | ||
| NR_170560.2:n.2597T>A | ||
| NM_001345921.3:c.2313T>A | NP_001332850.1:p.Ala771= | |
| NM_001345922.3:c.2241T>A | NP_001332851.1:p.Ala747= | |
| NM_001387110.3:c.2502T>A | NP_001374039.1:p.Ala834= | |
| NM_001387111.3:c.2553T>A | NP_001374040.1:p.Ala851= | |
| NM_001387113.3:c.2511T>A | NP_001374042.1:p.Ala837= | |
| NM_001395893.1:c.2241T>A | NP_001382822.1:p.Ala747= | |
| NM_001395894.1:c.2553T>A | NP_001382823.1:p.Ala851= | |
| NM_001395897.1:c.2550T>A | NP_001382826.1:p.Ala850= | |
| NM_001395899.1:c.2358T>A | NP_001382828.1:p.Ala786= | |
| NM_001395900.1:c.2313T>A | NP_001382829.1:p.Ala771= | |
| NM_001395901.1:c.2271T>A | NP_001382830.1:p.Ala757= | |
| NM_001395902.1:c.2241T>A | NP_001382831.1:p.Ala747= | |
| NM_016218.6:c.2511T>A MANE Select | NP_057302.1:p.Ala837= | |
| NR_144315.3:n.2376T>A | ||
| NR_170559.3:n.2365T>A | ||
| NR_170560.3:n.2597T>A |