Linked Data
ClinVar Variation Id:
741084
ClinVar RCV Id:
RCV000917209
dbSNP Id:
rs115523943
ExAC:
12:68715389 C / T
gnomAD v2:
12-68715389-C-T
gnomAD v3:
12-68321609-C-T
gnomAD v4:
12-68321609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68321609C>T , CM000674.2:g.68321609C>T | GRCh38 |
| NC_000012.11:g.68715389C>T , CM000674.1:g.68715389C>T | GRCh37 |
| NC_000012.10:g.67001656C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682720.1:c.821G>A MANE Select | ENSP00000507100.1:p.Arg274His | |
| ENST00000303145.11:c.821G>A | ENSP00000302537.7:p.Arg274His | |
| ENST00000411698.6:c.686G>A | ENSP00000391006.2:p.Arg229His | |
| ENST00000536997.1:n.346G>A | ||
| ENST00000538454.2:n.160G>A | ||
| ENST00000540418.5:c.*315G>A | ENSP00000443815.2:n.*315G>A | |
| ENST00000540476.5:n.529G>A | ||
| ENST00000541686.5:c.806G>A | ENSP00000446000.1:p.Arg269His | |
| NM_001205028.1:c.686G>A | NP_001191957.1:p.Arg229His | |
| NM_017440.4:c.821G>A | NP_059136.2:p.Arg274His | |
| XM_005269026.1:c.821G>A | XP_005269083.1:p.Arg274His | |
| XM_005269027.1:c.821G>A | XP_005269084.1:p.Arg274His | |
| XM_011538569.1:c.821G>A | XP_011536871.1:p.Arg274His | |
| NM_001205028.2:c.686G>A | NP_001191957.1:p.Arg229His | |
| NM_001354969.1:c.821G>A | NP_001341898.1:p.Arg274His | |
| NM_001354970.1:c.671G>A | NP_001341899.1:p.Arg224His | |
| NM_001354971.1:c.-20G>A | NP_001341900.1:n.-20G>A | |
| NM_001354972.1:c.-20G>A | NP_001341901.1:n.-20G>A | |
| NM_001354973.1:c.-20G>A | NP_001341902.1:n.-20G>A | |
| NM_001354974.1:c.-20G>A | NP_001341903.1:n.-20G>A | |
| NM_017440.5:c.821G>A | NP_059136.2:p.Arg274His | |
| XM_017019646.2:c.-20G>A | XP_016875135.1:n.-20G>A | |
| XM_017019650.1:c.-20G>A | XP_016875139.1:n.-20G>A | |
| XR_002957361.1:n.2229G>A | ||
| NM_001368282.1:c.-20G>A | NP_001355211.1:n.-20G>A | |
| NM_001205028.3:c.686G>A | NP_001191957.1:p.Arg229His | |
| NM_001354969.2:c.821G>A MANE Select | NP_001341898.1:p.Arg274His | |
| NM_001354970.2:c.671G>A | NP_001341899.1:p.Arg224His | |
| NM_001354971.2:c.-20G>A | NP_001341900.1:n.-20G>A | |
| NM_001354972.2:c.-20G>A | NP_001341901.1:n.-20G>A | |
| NM_001354973.2:c.-20G>A | NP_001341902.1:n.-20G>A | |
| NM_001354974.2:c.-20G>A | NP_001341903.1:n.-20G>A | |
| NM_017440.6:c.821G>A | NP_059136.2:p.Arg274His |