Linked Data
ClinVar Variation Id:
1287111
ClinVar RCV Id:
RCV001708736
dbSNP Id:
rs202676
ExAC:
11:49227620 A / G
gnomAD v2:
11-49227620-A-G
gnomAD v3:
11-49206068-A-G
gnomAD v4:
11-49206068-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.49206068A>G , CM000673.2:g.49206068A>G | GRCh38 |
| NC_000011.9:g.49227620A>G , CM000673.1:g.49227620A>G | GRCh37 |
| NC_000011.8:g.49184196A>G | NCBI36 |
| NG_029170.1:g.7603T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256999.7:c.223T>C MANE Select | ENSP00000256999.2:p.Tyr75His | |
| ENST00000256999.6:c.223T>C | ENSP00000256999.2:p.Tyr75His | |
| ENST00000340334.11:c.178T>C | ENSP00000344131.7:p.Tyr60His | |
| ENST00000343844.8:c.-328T>C | ENSP00000344086.4:n.-328T>C | |
| ENST00000356696.7:c.223T>C | ENSP00000349129.3:p.Tyr75His | |
| ENST00000525826.5:c.223T>C | ENSP00000434928.1:p.Ter75Gln | |
| ENST00000529117.1:c.52T>C | ENSP00000431577.1:p.Tyr18His | |
| ENST00000529646.5:n.238T>C | ||
| ENST00000529648.1:c.*214T>C | ENSP00000431263.1:n.*214T>C | |
| ENST00000533034.1:c.178T>C | ENSP00000431463.1:p.Tyr60His | |
| ENST00000533510.5:c.*135T>C | ENSP00000436569.1:n.*135T>C | |
| NM_001014986.1:c.223T>C | NP_001014986.1:p.Tyr75His | |
| NM_001193471.1:c.178T>C | NP_001180400.1:p.Tyr60His | |
| NM_001193472.1:c.178T>C | NP_001180401.1:p.Tyr60His | |
| NM_001193473.1:c.-328T>C | NP_001180402.1:n.-328T>C | |
| NM_004476.1:c.223T>C | NP_004467.1:p.Tyr75His | |
| XM_011519958.1:c.178T>C | XP_011518260.1:p.Tyr60His | |
| NM_001014986.2:c.223T>C | NP_001014986.1:p.Tyr75His | |
| NM_001193471.2:c.178T>C | NP_001180400.1:p.Tyr60His | |
| NM_001193472.2:c.178T>C | NP_001180401.1:p.Tyr60His | |
| NM_001193473.2:c.-328T>C | NP_001180402.1:n.-328T>C | |
| NM_001351236.1:c.52T>C | NP_001338165.1:p.Tyr18His | |
| NM_004476.2:c.223T>C | NP_004467.1:p.Tyr75His | |
| XM_011519958.3:c.388T>C | XP_011518260.2:p.Tyr130His | |
| XM_017017432.1:c.388T>C | XP_016872921.1:p.Tyr130His | |
| XM_017017433.2:c.388T>C | XP_016872922.1:p.Tyr130His | |
| XM_017017434.1:c.178T>C | XP_016872923.1:p.Tyr60His | |
| XM_017017435.2:c.178T>C | XP_016872924.1:p.Tyr60His | |
| XM_017017444.2:c.-515T>C | XP_016872933.1:n.-515T>C | |
| XM_017017445.1:c.-515T>C | XP_016872934.1:n.-515T>C | |
| XM_017017446.1:c.-515T>C | XP_016872935.1:n.-515T>C | |
| XM_017017447.1:c.-515T>C | XP_016872936.1:n.-515T>C | |
| XM_017017448.1:c.-515T>C | XP_016872937.1:n.-515T>C | |
| XM_017017449.2:c.-515T>C | XP_016872938.1:n.-515T>C | |
| XM_017017450.2:c.-515T>C | XP_016872939.1:n.-515T>C | |
| XM_017017451.2:c.-515T>C | XP_016872940.1:n.-515T>C | |
| XM_024448411.1:c.-3916T>C | XP_024304179.1:n.-3916T>C | |
| XR_001747818.1:n.618T>C | ||
| XR_001747819.1:n.450T>C | ||
| NM_004476.3:c.223T>C MANE Select | NP_004467.1:p.Tyr75His | |
| NM_001014986.3:c.223T>C | NP_001014986.1:p.Tyr75His | |
| NM_001193471.3:c.178T>C | NP_001180400.1:p.Tyr60His | |
| NM_001193472.3:c.178T>C | NP_001180401.1:p.Tyr60His | |
| NM_001193473.3:c.-328T>C | NP_001180402.1:n.-328T>C | |
| NM_001351236.2:c.52T>C | NP_001338165.1:p.Tyr18His |