Linked Data
dbSNP Id:
rs907993565
gnomAD v2:
12-121615133-T-C
gnomAD v3:
12-121177330-T-C
gnomAD v4:
12-121177330-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177330T>C , CM000674.2:g.121177330T>C | GRCh38 |
| NC_000012.11:g.121615133T>C , CM000674.1:g.121615133T>C | GRCh37 |
| NC_000012.10:g.120099516T>C | NCBI36 |
| NG_011471.2:g.49456T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1072T>C MANE Select | ENSP00000330696.6:p.Tyr358His | |
| ENST00000261826.10:c.*525T>C | ENSP00000261826.6:n.*525T>C | |
| ENST00000328963.9:c.1072T>C | ENSP00000330696.6:p.Tyr358His | |
| ENST00000535250.5:c.1156T>C | ENSP00000442572.2:n.1156T>C | |
| ENST00000535600.2:c.889T>C | ENSP00000442470.1:n.889T>C | |
| ENST00000537312.5:c.*843T>C | ENSP00000438586.1:n.*843T>C | |
| ENST00000538011.5:c.1211T>C | ENSP00000439247.1:n.1211T>C | |
| ENST00000539606.5:c.1295T>C | ENSP00000445325.1:n.1295T>C | |
| ENST00000539695.5:n.1241T>C | ||
| ENST00000541022.5:c.862T>C | ENSP00000441230.1:n.862T>C | |
| ENST00000541564.5:c.935T>C | ENSP00000443640.1:n.935T>C | |
| ENST00000541716.5:c.1083T>C | ENSP00000437729.1:n.1083T>C | |
| NM_002562.5:c.1072T>C | NP_002553.3:p.Tyr358His | |
| NR_033948.1:n.1438T>C | ||
| NR_033949.1:n.1354T>C | ||
| NR_033950.1:n.1315T>C | ||
| NR_033951.1:n.1299T>C | ||
| NR_033952.1:n.1226T>C | ||
| NR_033953.1:n.1139T>C | ||
| NR_033954.1:n.1118T>C | ||
| NR_033955.1:n.1078T>C | ||
| NR_033956.1:n.1005T>C | ||
| XM_011538418.1:c.805T>C | XP_011536720.1:p.Tyr269His | |
| XM_011538419.1:c.760T>C | XP_011536721.1:p.Tyr254His | |
| XM_011538420.1:c.205T>C | XP_011536722.1:p.Tyr69His | |
| XR_945459.1:n.190-14913A>G | ||
| XR_945460.1:n.299-14913A>G | ||
| XM_011538419.3:c.760T>C | XP_011536721.1:p.Tyr254His | |
| XM_011538420.3:c.205T>C | XP_011536722.1:p.Tyr69His | |
| XM_017019364.2:c.712T>C | XP_016874853.1:p.Tyr238His | |
| XM_017019365.2:c.712T>C | XP_016874854.1:p.Tyr238His | |
| XM_017019366.2:c.319T>C | XP_016874855.1:p.Tyr107His | |
| XM_017019367.2:c.319T>C | XP_016874856.1:p.Tyr107His | |
| XR_001749352.2:n.186+26168A>G | ||
| XR_001749353.2:n.304-14913A>G | ||
| XR_001749354.2:n.186+26168A>G | ||
| XR_945459.3:n.187-14913A>G | ||
| XR_945460.3:n.299-14913A>G | ||
| NM_002562.6:c.1072T>C MANE Select | NP_002553.3:p.Tyr358His | |
| NR_033948.2:n.1390T>C | ||
| NR_033949.2:n.1306T>C | ||
| NR_033950.2:n.1267T>C | ||
| NR_033951.2:n.1251T>C | ||
| NR_033952.2:n.1178T>C | ||
| NR_033953.2:n.1082T>C | ||
| NR_033954.2:n.1070T>C | ||
| NR_033955.2:n.1030T>C | ||
| NR_033956.2:n.957T>C |