Linked Data
dbSNP Id:
rs758348890
ExAC:
5:74893778 T / C
gnomAD v2:
5-74893778-T-C
gnomAD v4:
5-75597953-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75597953T>C , CM000667.2:g.75597953T>C | GRCh38 |
| NC_000005.9:g.74893778T>C , CM000667.1:g.74893778T>C | GRCh37 |
| NC_000005.8:g.74929534T>C | NCBI36 |
| NG_051590.1:g.91204T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241436.9:c.2548T>C MANE Select | ENSP00000241436.4:p.Tyr850His | |
| ENST00000241436.8:c.2548T>C | ENSP00000241436.4:p.Tyr850His | |
| ENST00000502567.1:n.393T>C | ||
| ENST00000503479.6:c.*1071T>C | ENSP00000421997.2:n.*1071T>C | |
| ENST00000504026.5:c.1419T>C | ENSP00000425075.1:n.1419T>C | |
| ENST00000505069.1:n.272T>C | ||
| ENST00000505975.5:c.2662T>C | ENSP00000424859.1:n.2662T>C | |
| ENST00000506928.5:n.2671T>C | ||
| ENST00000508526.5:c.1954T>C | ENSP00000426853.1:p.Tyr652His | |
| ENST00000509126.2:c.2376T>C | ENSP00000423532.1:n.2376T>C | |
| ENST00000510815.6:c.*1071T>C | ENSP00000422094.2:n.*1071T>C | |
| ENST00000511527.5:c.1533T>C | ENSP00000420997.1:n.1533T>C | |
| ENST00000514141.5:c.*1167T>C | ENSP00000423526.1:n.*1167T>C | |
| NM_016218.2:c.2548T>C | NP_057302.1:p.Tyr850His | |
| XM_005248534.3:c.2590T>C | XP_005248591.1:p.Tyr864His | |
| XM_006714652.2:c.1303T>C | XP_006714715.1:p.Tyr435His | |
| XM_011543463.1:c.2590T>C | XP_011541765.1:p.Tyr864His | |
| XM_011543464.1:c.2590T>C | XP_011541766.1:p.Tyr864His | |
| XM_011543465.1:c.2590T>C | XP_011541767.1:p.Tyr864His | |
| XM_011543466.1:c.2590T>C | XP_011541768.1:p.Tyr864His | |
| XM_011543467.1:c.2320T>C | XP_011541769.1:p.Tyr774His | |
| XR_241784.1:n.2556T>C | ||
| XR_948273.1:n.2740T>C | ||
| NM_001345921.1:c.2350T>C | NP_001332850.1:p.Tyr784His | |
| NM_001345922.1:c.2278T>C | NP_001332851.1:p.Tyr760His | |
| NM_016218.3:c.2548T>C | NP_057302.1:p.Tyr850His | |
| NR_144315.1:n.2554T>C | ||
| XM_005248534.5:c.2590T>C | XP_005248591.1:p.Tyr864His | |
| XM_006714652.4:c.1303T>C | XP_006714715.1:p.Tyr435His | |
| XM_011543463.3:c.2590T>C | XP_011541765.1:p.Tyr864His | |
| XM_011543464.3:c.2590T>C | XP_011541766.1:p.Tyr864His | |
| XM_011543467.3:c.2320T>C | XP_011541769.1:p.Tyr774His | |
| XM_017009559.2:c.2548T>C | XP_016865048.1:p.Tyr850His | |
| XM_017009560.2:c.2548T>C | XP_016865049.1:p.Tyr850His | |
| XM_017009561.2:c.2392T>C | XP_016865050.1:p.Tyr798His | |
| XM_017009563.2:c.2278T>C | XP_016865052.1:p.Tyr760His | |
| XR_001742105.2:n.3038T>C | ||
| XR_001742107.2:n.3122T>C | ||
| XR_001742108.2:n.2656T>C | ||
| XR_241784.3:n.3080T>C | ||
| XR_948273.3:n.2740T>C | ||
| NM_001345921.2:c.2350T>C | NP_001332850.1:p.Tyr784His | |
| NM_001345922.2:c.2278T>C | NP_001332851.1:p.Tyr760His | |
| NM_001387110.2:c.2539T>C | NP_001374039.1:p.Tyr847His | |
| NM_001387111.2:c.2590T>C | NP_001374040.1:p.Tyr864His | |
| NM_001387113.2:c.2548T>C | NP_001374042.1:p.Tyr850His | |
| NM_016218.5:c.2548T>C | NP_057302.1:p.Tyr850His | |
| NR_144315.2:n.2413T>C | ||
| NR_170559.2:n.2402T>C | ||
| NR_170560.2:n.2634T>C | ||
| NM_001345921.3:c.2350T>C | NP_001332850.1:p.Tyr784His | |
| NM_001345922.3:c.2278T>C | NP_001332851.1:p.Tyr760His | |
| NM_001387110.3:c.2539T>C | NP_001374039.1:p.Tyr847His | |
| NM_001387111.3:c.2590T>C | NP_001374040.1:p.Tyr864His | |
| NM_001387113.3:c.2548T>C | NP_001374042.1:p.Tyr850His | |
| NM_001395893.1:c.2278T>C | NP_001382822.1:p.Tyr760His | |
| NM_001395894.1:c.2590T>C | NP_001382823.1:p.Tyr864His | |
| NM_001395897.1:c.2587T>C | NP_001382826.1:p.Tyr863His | |
| NM_001395899.1:c.2395T>C | NP_001382828.1:p.Tyr799His | |
| NM_001395900.1:c.2350T>C | NP_001382829.1:p.Tyr784His | |
| NM_001395901.1:c.2308T>C | NP_001382830.1:p.Tyr770His | |
| NM_001395902.1:c.2278T>C | NP_001382831.1:p.Tyr760His | |
| NM_016218.6:c.2548T>C MANE Select | NP_057302.1:p.Tyr850His | |
| NR_144315.3:n.2413T>C | ||
| NR_170559.3:n.2402T>C | ||
| NR_170560.3:n.2634T>C |