Linked Data
dbSNP Id:
rs746186293
ExAC:
12:121615218 A / C
gnomAD v2:
12-121615218-A-C
gnomAD v4:
12-121177415-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121177415A>C , CM000674.2:g.121177415A>C | GRCh38 |
| NC_000012.11:g.121615218A>C , CM000674.1:g.121615218A>C | GRCh37 |
| NC_000012.10:g.120099601A>C | NCBI36 |
| NG_011471.2:g.49541A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328963.10:c.1157A>C MANE Select | ENSP00000330696.6:p.Lys386Thr | |
| ENST00000261826.10:c.*610A>C | ENSP00000261826.6:n.*610A>C | |
| ENST00000328963.9:c.1157A>C | ENSP00000330696.6:p.Lys386Thr | |
| ENST00000535250.5:c.1241A>C | ENSP00000442572.2:n.1241A>C | |
| ENST00000535600.2:c.974A>C | ENSP00000442470.1:n.974A>C | |
| ENST00000537312.5:c.*928A>C | ENSP00000438586.1:n.*928A>C | |
| ENST00000538011.5:c.1296A>C | ENSP00000439247.1:n.1296A>C | |
| ENST00000539606.5:c.1380A>C | ENSP00000445325.1:n.1380A>C | |
| ENST00000539695.5:n.1326A>C | ||
| ENST00000541022.5:c.947A>C | ENSP00000441230.1:n.947A>C | |
| ENST00000541564.5:c.1020A>C | ENSP00000443640.1:n.1020A>C | |
| ENST00000541716.5:c.1168A>C | ENSP00000437729.1:n.1168A>C | |
| NM_002562.5:c.1157A>C | NP_002553.3:p.Lys386Thr | |
| NR_033948.1:n.1523A>C | ||
| NR_033949.1:n.1439A>C | ||
| NR_033950.1:n.1400A>C | ||
| NR_033951.1:n.1384A>C | ||
| NR_033952.1:n.1311A>C | ||
| NR_033953.1:n.1224A>C | ||
| NR_033954.1:n.1203A>C | ||
| NR_033955.1:n.1163A>C | ||
| NR_033956.1:n.1090A>C | ||
| XM_011538418.1:c.890A>C | XP_011536720.1:p.Lys297Thr | |
| XM_011538419.1:c.845A>C | XP_011536721.1:p.Lys282Thr | |
| XM_011538420.1:c.290A>C | XP_011536722.1:p.Lys97Thr | |
| XR_945459.1:n.190-14998T>G | ||
| XR_945460.1:n.299-14998T>G | ||
| XM_011538419.3:c.845A>C | XP_011536721.1:p.Lys282Thr | |
| XM_011538420.3:c.290A>C | XP_011536722.1:p.Lys97Thr | |
| XM_017019364.2:c.797A>C | XP_016874853.1:p.Lys266Thr | |
| XM_017019365.2:c.797A>C | XP_016874854.1:p.Lys266Thr | |
| XM_017019366.2:c.404A>C | XP_016874855.1:p.Lys135Thr | |
| XM_017019367.2:c.404A>C | XP_016874856.1:p.Lys135Thr | |
| XR_001749352.2:n.186+26083T>G | ||
| XR_001749353.2:n.304-14998T>G | ||
| XR_001749354.2:n.186+26083T>G | ||
| XR_945459.3:n.187-14998T>G | ||
| XR_945460.3:n.299-14998T>G | ||
| NM_002562.6:c.1157A>C MANE Select | NP_002553.3:p.Lys386Thr | |
| NR_033948.2:n.1475A>C | ||
| NR_033949.2:n.1391A>C | ||
| NR_033950.2:n.1352A>C | ||
| NR_033951.2:n.1336A>C | ||
| NR_033952.2:n.1263A>C | ||
| NR_033953.2:n.1167A>C | ||
| NR_033954.2:n.1155A>C | ||
| NR_033955.2:n.1115A>C | ||
| NR_033956.2:n.1042A>C |