Linked Data
ClinVar Variation Id:
499448
dbSNP Id:
rs180775012
ExAC:
21:47819594 A / T
gnomAD v2:
21-47819594-A-T
gnomAD v3:
21-46399680-A-T
gnomAD v4:
21-46399680-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46399680A>T , CM000683.2:g.46399680A>T | GRCh38 |
| NC_000021.8:g.47819594A>T , CM000683.1:g.47819594A>T | GRCh37 |
| NC_000021.7:g.46644022A>T | NCBI36 |
| NG_008961.1:g.80559A>T | |
| NG_008961.2:g.80559A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695558.1:c.4708A>T | ENSP00000512015.1:p.Met1570Leu | |
| ENST00000703224.1:c.*3918A>T | ENSP00000515242.1:n.*3918A>T | |
| ENST00000359568.10:c.4675A>T MANE Select | ENSP00000352572.5:p.Met1559Leu | |
| ENST00000359568.9:c.4675A>T | ENSP00000352572.5:p.Met1559Leu | |
| ENST00000480896.5:n.4944A>T | ||
| NM_001315529.1:c.4321A>T | NP_001302458.1:p.Met1441Leu | |
| NM_006031.5:c.4675A>T | NP_006022.3:p.Met1559Leu | |
| XM_005261124.3:c.4708A>T | XP_005261181.1:p.Met1570Leu | |
| XM_011529593.1:c.4786A>T | XP_011527895.1:p.Met1596Leu | |
| XM_011529594.1:c.4756A>T | XP_011527896.1:p.Met1586Leu | |
| XM_005261124.5:c.4708A>T | XP_005261181.1:p.Met1570Leu | |
| XM_011529594.3:c.4756A>T | XP_011527896.1:p.Met1586Leu | |
| XM_017028362.2:c.4675A>T | XP_016883851.1:p.Met1559Leu | |
| XM_017028363.1:c.4354A>T | XP_016883852.1:p.Met1452Leu | |
| XM_024452082.1:c.3592A>T | XP_024307850.1:p.Met1198Leu | |
| XM_024452083.1:c.2488A>T | XP_024307851.1:p.Met830Leu | |
| NM_006031.6:c.4675A>T MANE Select | NP_006022.3:p.Met1559Leu | |
| NM_001315529.2:c.4321A>T | NP_001302458.1:p.Met1441Leu |