Linked Data
ClinVar Variation Id:
259929
dbSNP Id:
rs2298258
ExAC:
1:162737116 C / G
gnomAD v2:
1-162737116-C-G
gnomAD v3:
1-162767326-C-G
gnomAD v4:
1-162767326-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162767326C>G , CM000663.2:g.162767326C>G | GRCh38 |
| NC_000001.10:g.162737116C>G , CM000663.1:g.162737116C>G | GRCh37 |
| NC_000001.9:g.161003740C>G | NCBI36 |
| NG_016290.1:g.139889C>G | |
| NG_016290.2:g.141114C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367921.8:c.1260C>G MANE Select | ENSP00000356898.3:p.Leu420= | |
| ENST00000446985.6:c.1260C>G | ENSP00000400309.2:p.Leu420= | |
| ENST00000672207.1:n.1646C>G | ||
| ENST00000367921.7:c.1260C>G | ENSP00000356898.3:p.Leu420= | |
| ENST00000367922.7:c.1260C>G | ENSP00000356899.2:p.Leu420= | |
| ENST00000433757.1:c.37C>G | ||
| ENST00000458105.1:c.90C>G | ENSP00000417030.1:p.Leu30= | |
| NM_001014796.1:c.1260C>G | NP_001014796.1:p.Leu420= | |
| NM_006182.2:c.1260C>G | NP_006173.2:p.Leu420= | |
| XM_006711344.2:c.1260C>G | XP_006711407.1:p.Leu420= | |
| XM_011509586.1:c.1260C>G | XP_011507888.1:p.Leu420= | |
| XM_011509587.1:c.1260C>G | XP_011507889.1:p.Leu420= | |
| XM_011509588.1:c.1260C>G | XP_011507890.1:p.Leu420= | |
| XM_011509589.1:c.1260C>G | XP_011507891.1:p.Leu420= | |
| NM_001014796.2:c.1260C>G | NP_001014796.1:p.Leu420= | |
| NM_001354982.1:c.1260C>G | NP_001341911.1:p.Leu420= | |
| NM_001354983.1:c.1260C>G | NP_001341912.1:p.Leu420= | |
| NM_006182.3:c.1260C>G | NP_006173.2:p.Leu420= | |
| XM_011509587.2:c.1260C>G | XP_011507889.1:p.Leu420= | |
| XM_011509588.3:c.1260C>G | XP_011507890.1:p.Leu420= | |
| NM_006182.4:c.1260C>G MANE Select | NP_006173.2:p.Leu420= | |
| NM_001014796.3:c.1260C>G | NP_001014796.1:p.Leu420= | |
| NM_001354982.2:c.1260C>G | NP_001341911.1:p.Leu420= | |
| NM_001354983.2:c.1260C>G | NP_001341912.1:p.Leu420= |