Linked Data
ClinVar Variation Id:
285245
dbSNP Id:
rs147351244
ExAC:
6:51612936 G / A
gnomAD v2:
6-51612936-G-A
gnomAD v3:
6-51748138-G-A
gnomAD v4:
6-51748138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51748138G>A , CM000668.2:g.51748138G>A | GRCh38 |
| NC_000006.11:g.51612936G>A , CM000668.1:g.51612936G>A | GRCh37 |
| NC_000006.10:g.51720895G>A | NCBI36 |
| NG_008753.1:g.344488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9478C>T MANE Select | ENSP00000360158.3:p.His3160Tyr | |
| ENST00000340994.4:c.9478C>T | ENSP00000341097.4:p.His3160Tyr | |
| ENST00000371117.7:c.9478C>T | ENSP00000360158.3:p.His3160Tyr | |
| NM_138694.3:c.9478C>T | NP_619639.3:p.His3160Tyr | |
| NM_170724.2:c.9478C>T | NP_733842.2:p.His3160Tyr | |
| XM_011514679.1:c.9478C>T | XP_011512981.1:p.His3160Tyr | |
| XM_011514680.1:c.9478C>T | XP_011512982.1:p.His3160Tyr | |
| XM_011514681.1:c.9349C>T | XP_011512983.1:p.His3117Tyr | |
| XM_011514682.1:c.9340C>T | XP_011512984.1:p.His3114Tyr | |
| XM_011514683.1:c.8836C>T | XP_011512985.1:p.His2946Tyr | |
| XM_011514684.1:c.8767C>T | XP_011512986.1:p.His2923Tyr | |
| XM_011514685.1:c.9478C>T | XP_011512987.1:p.His3160Tyr | |
| XM_011514686.1:c.9478C>T | XP_011512988.1:p.His3160Tyr | |
| XM_011514687.1:c.9478C>T | XP_011512989.1:p.His3160Tyr | |
| XM_011514688.1:c.9478C>T | XP_011512990.1:p.His3160Tyr | |
| XM_011514690.1:c.3553C>T | XP_011512992.1:p.His1185Tyr | |
| XM_011514691.1:c.3553C>T | XP_011512993.1:p.His1185Tyr | |
| XM_011514680.3:c.9478C>T | XP_011512982.1:p.His3160Tyr | |
| XM_011514682.3:c.9340C>T | XP_011512984.1:p.His3114Tyr | |
| XM_011514683.3:c.8836C>T | XP_011512985.1:p.His2946Tyr | |
| XM_011514684.3:c.8767C>T | XP_011512986.1:p.His2923Tyr | |
| XM_011514686.2:c.9478C>T | XP_011512988.1:p.His3160Tyr | |
| XM_011514688.2:c.9478C>T | XP_011512990.1:p.His3160Tyr | |
| XM_011514690.3:c.3553C>T | XP_011512992.1:p.His1185Tyr | |
| XM_011514691.3:c.3553C>T | XP_011512993.1:p.His1185Tyr | |
| XM_017010944.2:c.9478C>T | XP_016866433.1:p.His3160Tyr | |
| XM_017010945.2:c.9403C>T | XP_016866434.1:p.His3135Tyr | |
| XM_017010946.2:c.9283C>T | XP_016866435.1:p.His3095Tyr | |
| XM_017010947.2:c.9214C>T | XP_016866436.1:p.His3072Tyr | |
| XM_017010948.2:c.8767C>T | XP_016866437.1:p.His2923Tyr | |
| XM_017010949.2:c.7618C>T | XP_016866438.1:p.His2540Tyr | |
| XM_017010950.1:c.9478C>T | XP_016866439.1:p.His3160Tyr | |
| XR_001743469.1:n.9754C>T | ||
| NM_138694.4:c.9478C>T MANE Select | NP_619639.3:p.His3160Tyr | |
| NM_170724.3:c.9478C>T | NP_733842.2:p.His3160Tyr |