Linked Data
ClinVar Variation Id:
1161471
ClinVar RCV Id:
RCV001506019
dbSNP Id:
rs530821170
ExAC:
1:197390438 C / T
gnomAD v2:
1-197390438-C-T
gnomAD v3:
1-197421308-C-T
gnomAD v4:
1-197421308-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421308C>T , CM000663.2:g.197421308C>T | GRCh38 |
| NC_000001.10:g.197390438C>T , CM000663.1:g.197390438C>T | GRCh37 |
| NC_000001.9:g.195657061C>T | NCBI36 |
| NG_008483.1:g.158031C>T | |
| NG_008483.2:g.224847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1480C>T MANE Select | ENSP00000356370.3:p.Leu494= | |
| ENST00000638467.1:c.1480C>T | ENSP00000491102.1:p.Leu494= | |
| ENST00000681519.1:c.361C>T | ENSP00000505267.1:p.Leu121= | |
| ENST00000367397.1:c.-378C>T | ENSP00000356367.1:n.-378C>T | |
| ENST00000367399.6:c.1144C>T | ENSP00000356369.2:p.Leu382= | |
| ENST00000367400.7:c.1480C>T | ENSP00000356370.3:p.Leu494= | |
| ENST00000476483.1:n.440C>T | ||
| ENST00000484075.5:c.1480C>T | ENSP00000433932.1:p.Leu494= | |
| ENST00000535699.5:c.1273C>T | ENSP00000438786.1:p.Leu425= | |
| ENST00000538660.5:c.1480C>T | ENSP00000438091.1:p.Leu494= | |
| NM_001193640.1:c.1144C>T | NP_001180569.1:p.Leu382= | |
| NM_001257965.1:c.1273C>T | NP_001244894.1:p.Leu425= | |
| NM_001257966.1:c.1480C>T | NP_001244895.1:p.Leu494= | |
| NM_201253.2:c.1480C>T | NP_957705.1:p.Leu494= | |
| NR_047563.1:n.1689C>T | ||
| NR_047564.1:n.1689C>T | ||
| XM_011509365.1:c.1480C>T | XP_011507667.1:p.Leu494= | |
| XM_011509366.1:c.1480C>T | XP_011507668.1:p.Leu494= | |
| XM_011509367.1:c.1480C>T | XP_011507669.1:p.Leu494= | |
| XM_011509368.1:c.898C>T | XP_011507670.1:p.Leu300= | |
| XM_011509369.1:c.-78C>T | XP_011507671.1:n.-78C>T | |
| XM_011509365.2:c.1480C>T | XP_011507667.1:p.Leu494= | |
| XM_011509369.2:c.-78C>T | XP_011507671.1:n.-78C>T | |
| XM_017000851.1:c.637C>T | XP_016856340.1:p.Leu213= | |
| XM_017000852.1:c.1480C>T | XP_016856341.1:p.Leu494= | |
| NM_201253.3:c.1480C>T MANE Select | NP_957705.1:p.Leu494= | |
| NM_001193640.2:c.1144C>T | NP_001180569.1:p.Leu382= | |
| NM_001257965.2:c.1273C>T | NP_001244894.1:p.Leu425= | |
| NR_047563.2:n.1641C>T | ||
| NR_047564.2:n.1641C>T | ||
| NM_001257966.2:c.1480C>T | NP_001244895.1:p.Leu494= |