Linked Data
dbSNP Id:
rs200088396
ExAC:
12:121615152 G / A
gnomAD v2:
12-121615152-G-A
gnomAD v3:
12-121177349-G-A
gnomAD v4:
12-121177349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177349G>A , CM000674.2:g.121177349G>A | GRCh38 |
| NC_000012.11:g.121615152G>A , CM000674.1:g.121615152G>A | GRCh37 |
| NC_000012.10:g.120099535G>A | NCBI36 |
| NG_011471.2:g.49475G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1091G>A MANE Select | ENSP00000330696.6:p.Arg364His | |
| ENST00000261826.10:c.*544G>A | ENSP00000261826.6:n.*544G>A | |
| ENST00000328963.9:c.1091G>A | ENSP00000330696.6:p.Arg364His | |
| ENST00000535250.5:c.1175G>A | ENSP00000442572.2:n.1175G>A | |
| ENST00000535600.2:c.908G>A | ENSP00000442470.1:n.908G>A | |
| ENST00000537312.5:c.*862G>A | ENSP00000438586.1:n.*862G>A | |
| ENST00000538011.5:c.1230G>A | ENSP00000439247.1:n.1230G>A | |
| ENST00000539606.5:c.1314G>A | ENSP00000445325.1:n.1314G>A | |
| ENST00000539695.5:n.1260G>A | ||
| ENST00000541022.5:c.881G>A | ENSP00000441230.1:n.881G>A | |
| ENST00000541564.5:c.954G>A | ENSP00000443640.1:n.954G>A | |
| ENST00000541716.5:c.1102G>A | ENSP00000437729.1:n.1102G>A | |
| NM_002562.5:c.1091G>A | NP_002553.3:p.Arg364His | |
| NR_033948.1:n.1457G>A | ||
| NR_033949.1:n.1373G>A | ||
| NR_033950.1:n.1334G>A | ||
| NR_033951.1:n.1318G>A | ||
| NR_033952.1:n.1245G>A | ||
| NR_033953.1:n.1158G>A | ||
| NR_033954.1:n.1137G>A | ||
| NR_033955.1:n.1097G>A | ||
| NR_033956.1:n.1024G>A | ||
| XM_011538418.1:c.824G>A | XP_011536720.1:p.Arg275His | |
| XM_011538419.1:c.779G>A | XP_011536721.1:p.Arg260His | |
| XM_011538420.1:c.224G>A | XP_011536722.1:p.Arg75His | |
| XR_945459.1:n.190-14932C>T | ||
| XR_945460.1:n.299-14932C>T | ||
| XM_011538419.3:c.779G>A | XP_011536721.1:p.Arg260His | |
| XM_011538420.3:c.224G>A | XP_011536722.1:p.Arg75His | |
| XM_017019364.2:c.731G>A | XP_016874853.1:p.Arg244His | |
| XM_017019365.2:c.731G>A | XP_016874854.1:p.Arg244His | |
| XM_017019366.2:c.338G>A | XP_016874855.1:p.Arg113His | |
| XM_017019367.2:c.338G>A | XP_016874856.1:p.Arg113His | |
| XR_001749352.2:n.186+26149C>T | ||
| XR_001749353.2:n.304-14932C>T | ||
| XR_001749354.2:n.186+26149C>T | ||
| XR_945459.3:n.187-14932C>T | ||
| XR_945460.3:n.299-14932C>T | ||
| NM_002562.6:c.1091G>A MANE Select | NP_002553.3:p.Arg364His | |
| NR_033948.2:n.1409G>A | ||
| NR_033949.2:n.1325G>A | ||
| NR_033950.2:n.1286G>A | ||
| NR_033951.2:n.1270G>A | ||
| NR_033952.2:n.1197G>A | ||
| NR_033953.2:n.1101G>A | ||
| NR_033954.2:n.1089G>A | ||
| NR_033955.2:n.1049G>A | ||
| NR_033956.2:n.976G>A |