Linked Data
ClinVar Variation Id:
296127
dbSNP Id:
rs370837823
ExAC:
1:231406677 C / T
gnomAD v2:
1-231406677-C-T
gnomAD v3:
1-231270931-C-T
gnomAD v4:
1-231270931-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231270931C>T , CM000663.2:g.231270931C>T | GRCh38 |
| NC_000001.10:g.231406677C>T , CM000663.1:g.231406677C>T | GRCh37 |
| NC_000001.9:g.229473300C>T | NCBI36 |
| NG_008240.1:g.34759C>T | |
| NG_008240.2:g.34759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.1453C>T MANE Select | ENSP00000355607.4:p.Leu485= | |
| ENST00000644483.1:c.*1139C>T | ENSP00000496537.1:n.*1139C>T | |
| ENST00000366647.8:c.1453C>T | ENSP00000355607.4:p.Leu485= | |
| ENST00000416000.1:c.1423C>T | ENSP00000411640.1:p.Leu475= | |
| NM_001316350.1:c.1270C>T | NP_001303279.1:p.Leu424= | |
| NM_014236.3:c.1453C>T | NP_055051.1:p.Leu485= | |
| XM_005273313.3:c.1450C>T | XP_005273370.1:p.Leu484= | |
| XM_011544303.1:c.1126C>T | XP_011542605.1:p.Leu376= | |
| XM_011544304.1:c.1126C>T | XP_011542606.1:p.Leu376= | |
| XM_005273313.4:c.1450C>T | XP_005273370.1:p.Leu484= | |
| XM_011544303.3:c.1126C>T | XP_011542605.1:p.Leu376= | |
| XM_011544304.2:c.1126C>T | XP_011542606.1:p.Leu376= | |
| NM_014236.4:c.1453C>T MANE Select | NP_055051.1:p.Leu485= | |
| NM_001316350.2:c.1270C>T | NP_001303279.1:p.Leu424= |