Linked Data
ClinVar Variation Id:
350029
dbSNP Id:
rs535577967
ExAC:
4:88989079 A / G
gnomAD v2:
4-88989079-A-G
gnomAD v3:
4-88067927-A-G
gnomAD v4:
4-88067927-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88067927A>G , CM000666.2:g.88067927A>G | GRCh38 |
| NC_000004.11:g.88989079A>G , CM000666.1:g.88989079A>G | GRCh37 |
| NC_000004.10:g.89208103A>G | NCBI36 |
| NG_008604.1:g.65260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2388A>G MANE Select | ENSP00000237596.2:p.Leu796= | |
| ENST00000237596.6:c.2388A>G | ENSP00000237596.2:p.Leu796= | |
| ENST00000502363.1:c.642A>G | ENSP00000425289.1:p.Leu214= | |
| ENST00000508588.5:c.642A>G | ENSP00000427131.1:p.Leu214= | |
| ENST00000511337.5:n.640A>G | ||
| ENST00000512858.1:n.866A>G | ||
| NM_000297.3:c.2388A>G | NP_000288.1:p.Leu796= | |
| XM_011532028.1:c.2163A>G | XP_011530330.1:p.Leu721= | |
| XM_011532029.1:c.1668A>G | XP_011530331.1:p.Leu556= | |
| XM_011532030.1:c.1548A>G | XP_011530332.1:p.Leu516= | |
| NR_156488.1:n.2354A>G | ||
| XM_011532028.2:c.2163A>G | XP_011530330.1:p.Leu721= | |
| XM_011532030.2:c.1548A>G | XP_011530332.1:p.Leu516= | |
| NM_000297.4:c.2388A>G MANE Select | NP_000288.1:p.Leu796= | |
| NR_156488.2:n.2366A>G |