Linked Data
ClinVar Variation Id:
286557
dbSNP Id:
rs140710321
ExAC:
1:162740180 C / T
gnomAD v2:
1-162740180-C-T
gnomAD v3:
1-162770390-C-T
gnomAD v4:
1-162770390-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162770390C>T , CM000663.2:g.162770390C>T | GRCh38 |
| NC_000001.10:g.162740180C>T , CM000663.1:g.162740180C>T | GRCh37 |
| NC_000001.9:g.161006804C>T | NCBI36 |
| NG_016290.1:g.142953C>T | |
| NG_016290.2:g.144178C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367921.8:c.1382C>T MANE Select | ENSP00000356898.3:p.Ser461Leu | |
| ENST00000446985.6:c.1382C>T | ENSP00000400309.2:p.Ser461Leu | |
| ENST00000672207.1:n.1768C>T | ||
| ENST00000367921.7:c.1382C>T | ENSP00000356898.3:p.Ser461Leu | |
| ENST00000367922.7:c.1382C>T | ENSP00000356899.2:p.Ser461Leu | |
| ENST00000433757.1:c.159C>T | ||
| ENST00000458105.1:c.212C>T | ENSP00000417030.1:p.Ser71Leu | |
| NM_001014796.1:c.1382C>T | NP_001014796.1:p.Ser461Leu | |
| NM_006182.2:c.1382C>T | NP_006173.2:p.Ser461Leu | |
| XM_006711344.2:c.1382C>T | XP_006711407.1:p.Ser461Leu | |
| XM_011509586.1:c.1382C>T | XP_011507888.1:p.Ser461Leu | |
| XM_011509587.1:c.1382C>T | XP_011507889.1:p.Ser461Leu | |
| XM_011509588.1:c.1382C>T | XP_011507890.1:p.Ser461Leu | |
| XM_011509589.1:c.1382C>T | XP_011507891.1:p.Ser461Leu | |
| NM_001014796.2:c.1382C>T | NP_001014796.1:p.Ser461Leu | |
| NM_001354982.1:c.1382C>T | NP_001341911.1:p.Ser461Leu | |
| NM_001354983.1:c.1382C>T | NP_001341912.1:p.Ser461Leu | |
| NM_006182.3:c.1382C>T | NP_006173.2:p.Ser461Leu | |
| XM_011509587.2:c.1382C>T | XP_011507889.1:p.Ser461Leu | |
| XM_011509588.3:c.1382C>T | XP_011507890.1:p.Ser461Leu | |
| NM_006182.4:c.1382C>T MANE Select | NP_006173.2:p.Ser461Leu | |
| NM_001014796.3:c.1382C>T | NP_001014796.1:p.Ser461Leu | |
| NM_001354982.2:c.1382C>T | NP_001341911.1:p.Ser461Leu | |
| NM_001354983.2:c.1382C>T | NP_001341912.1:p.Ser461Leu |