Linked Data
ClinVar Variation Id:
521669
ClinVar RCV Id:
RCV000622373
RCV001112152
RCV001115110
RCV001173262
RCV001112153
RCV001115109
RCV001115111
RCV001112154
RCV001797114
dbSNP Id:
rs763889344
ExAC:
12:110230581 T / A
gnomAD v2:
12-110230581-T-A
gnomAD v3:
12-109792776-T-A
gnomAD v4:
12-109792776-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109792776T>A , CM000674.2:g.109792776T>A | GRCh38 |
| NC_000012.11:g.110230581T>A , CM000674.1:g.110230581T>A | GRCh37 |
| NC_000012.10:g.108714964T>A | NCBI36 |
| NG_017090.1:g.45632A>T , LRG_372:g.45632A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.1700A>T MANE Select | ENSP00000261740.2:p.Tyr567Phe | |
| ENST00000418703.7:c.1700A>T | ENSP00000406191.2:p.Tyr567Phe | |
| ENST00000674908.1:c.*787A>T | ENSP00000502012.1:n.*787A>T | |
| ENST00000675533.1:n.1731A>T | ||
| ENST00000675670.1:c.1700A>T | ENSP00000502135.1:p.Tyr567Phe | |
| ENST00000676376.1:n.1731A>T | ||
| ENST00000261740.6:c.1700A>T | ENSP00000261740.2:p.Tyr567Phe | |
| ENST00000418703.6:c.1700A>T | ENSP00000406191.2:p.Tyr567Phe | |
| ENST00000536838.1:c.1598A>T | ENSP00000444336.1:p.Tyr533Phe | |
| ENST00000537083.5:c.1520A>T | ENSP00000442738.1:p.Tyr507Phe | |
| ENST00000538125.5:c.*83A>T | ENSP00000437449.1:n.*83A>T | |
| ENST00000541794.5:c.1559A>T | ENSP00000442167.1:p.Tyr520Phe | |
| ENST00000544971.5:c.1379A>T | ENSP00000443611.1:p.Tyr460Phe | |
| NM_001177428.1:c.1559A>T | NP_001170899.1:p.Tyr520Phe | |
| NM_001177431.1:c.1598A>T | NP_001170902.1:p.Tyr533Phe | |
| NM_001177433.1:c.1379A>T | NP_001170904.1:p.Tyr460Phe | |
| NM_021625.4:c.1700A>T , LRG_372t1:c.1700A>T | NP_067638.3:p.Tyr567Phe | |
| NM_147204.2:c.1520A>T | NP_671737.1:p.Tyr507Phe | |
| XM_005253918.1:c.1700A>T | XP_005253975.1:p.Tyr567Phe | |
| XM_011538630.1:c.1700A>T | XP_011536932.1:p.Tyr567Phe | |
| XM_011538631.1:c.1559A>T | XP_011536933.1:p.Tyr520Phe | |
| XM_011538632.1:c.1520A>T | XP_011536934.1:p.Tyr507Phe | |
| XM_011538633.1:c.1379A>T | XP_011536935.1:p.Tyr460Phe | |
| XM_011538634.1:c.1700A>T | XP_011536936.1:p.Tyr567Phe | |
| XM_011538635.1:c.1853A>T | XP_011536937.1:p.Tyr618Phe | |
| XM_011538636.1:c.1812-9A>T | XP_011536938.1:n.1812-9A>T | |
| XM_011538630.2:c.1853A>T | XP_011536932.2:p.Tyr618Phe | |
| XM_011538631.2:c.1712A>T | XP_011536933.2:p.Tyr571Phe | |
| XM_011538632.2:c.1673A>T | XP_011536934.2:p.Tyr558Phe | |
| XM_011538633.2:c.1532A>T | XP_011536935.2:p.Tyr511Phe | |
| XM_011538634.2:c.1853A>T | XP_011536936.2:p.Tyr618Phe | |
| XM_011538635.2:c.1853A>T | XP_011536937.1:p.Tyr618Phe | |
| XM_017019774.1:c.1700A>T | XP_016875263.1:p.Tyr567Phe | |
| NM_021625.5:c.1700A>T MANE Select | NP_067638.3:p.Tyr567Phe |