Linked Data
dbSNP Id:
rs761838744
ExAC:
12:121615157 C / T
gnomAD v2:
12-121615157-C-T
gnomAD v3:
12-121177354-C-T
gnomAD v4:
12-121177354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177354C>T , CM000674.2:g.121177354C>T | GRCh38 |
| NC_000012.11:g.121615157C>T , CM000674.1:g.121615157C>T | GRCh37 |
| NC_000012.10:g.120099540C>T | NCBI36 |
| NG_011471.2:g.49480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1096C>T MANE Select | ENSP00000330696.6:p.His366Tyr | |
| ENST00000261826.10:c.*549C>T | ENSP00000261826.6:n.*549C>T | |
| ENST00000328963.9:c.1096C>T | ENSP00000330696.6:p.His366Tyr | |
| ENST00000535250.5:c.1180C>T | ENSP00000442572.2:n.1180C>T | |
| ENST00000535600.2:c.913C>T | ENSP00000442470.1:n.913C>T | |
| ENST00000537312.5:c.*867C>T | ENSP00000438586.1:n.*867C>T | |
| ENST00000538011.5:c.1235C>T | ENSP00000439247.1:n.1235C>T | |
| ENST00000539606.5:c.1319C>T | ENSP00000445325.1:n.1319C>T | |
| ENST00000539695.5:n.1265C>T | ||
| ENST00000541022.5:c.886C>T | ENSP00000441230.1:n.886C>T | |
| ENST00000541564.5:c.959C>T | ENSP00000443640.1:n.959C>T | |
| ENST00000541716.5:c.1107C>T | ENSP00000437729.1:n.1107C>T | |
| NM_002562.5:c.1096C>T | NP_002553.3:p.His366Tyr | |
| NR_033948.1:n.1462C>T | ||
| NR_033949.1:n.1378C>T | ||
| NR_033950.1:n.1339C>T | ||
| NR_033951.1:n.1323C>T | ||
| NR_033952.1:n.1250C>T | ||
| NR_033953.1:n.1163C>T | ||
| NR_033954.1:n.1142C>T | ||
| NR_033955.1:n.1102C>T | ||
| NR_033956.1:n.1029C>T | ||
| XM_011538418.1:c.829C>T | XP_011536720.1:p.His277Tyr | |
| XM_011538419.1:c.784C>T | XP_011536721.1:p.His262Tyr | |
| XM_011538420.1:c.229C>T | XP_011536722.1:p.His77Tyr | |
| XR_945459.1:n.190-14937G>A | ||
| XR_945460.1:n.299-14937G>A | ||
| XM_011538419.3:c.784C>T | XP_011536721.1:p.His262Tyr | |
| XM_011538420.3:c.229C>T | XP_011536722.1:p.His77Tyr | |
| XM_017019364.2:c.736C>T | XP_016874853.1:p.His246Tyr | |
| XM_017019365.2:c.736C>T | XP_016874854.1:p.His246Tyr | |
| XM_017019366.2:c.343C>T | XP_016874855.1:p.His115Tyr | |
| XM_017019367.2:c.343C>T | XP_016874856.1:p.His115Tyr | |
| XR_001749352.2:n.186+26144G>A | ||
| XR_001749353.2:n.304-14937G>A | ||
| XR_001749354.2:n.186+26144G>A | ||
| XR_945459.3:n.187-14937G>A | ||
| XR_945460.3:n.299-14937G>A | ||
| NM_002562.6:c.1096C>T MANE Select | NP_002553.3:p.His366Tyr | |
| NR_033948.2:n.1414C>T | ||
| NR_033949.2:n.1330C>T | ||
| NR_033950.2:n.1291C>T | ||
| NR_033951.2:n.1275C>T | ||
| NR_033952.2:n.1202C>T | ||
| NR_033953.2:n.1106C>T | ||
| NR_033954.2:n.1094C>T | ||
| NR_033955.2:n.1054C>T | ||
| NR_033956.2:n.981C>T |