Linked Data
ClinVar Variation Id:
1464329
ClinVar RCV Id:
RCV001997929
dbSNP Id:
rs368258006
ExAC:
16:16248553 G / A
gnomAD v2:
16-16248553-G-A
gnomAD v3:
16-16154696-G-A
gnomAD v4:
16-16154696-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154696G>A , CM000678.2:g.16154696G>A | GRCh38 |
| NC_000016.9:g.16248553G>A , CM000678.1:g.16248553G>A | GRCh37 |
| NC_000016.8:g.16156054G>A | NCBI36 |
| NG_007558.2:g.73776C>T | |
| NG_007558.3:g.73922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*312C>T | ENSP00000483331.2:n.*312C>T | |
| ENST00000205557.12:c.4140C>T MANE Select | ENSP00000205557.7:p.Leu1380= | |
| ENST00000640696.1:c.954C>T | ENSP00000492197.1:p.Leu318= | |
| ENST00000205557.11:c.4140C>T | ENSP00000205557.7:p.Leu1380= | |
| ENST00000456970.6:c.3765C>T | ENSP00000405002.2:n.3765C>T | |
| ENST00000576204.5:n.1003C>T | ||
| ENST00000622290.4:c.*1349C>T | ENSP00000483331.1:n.*1349C>T | |
| NM_001171.5:c.4140C>T | NP_001162.4:p.Leu1380= | |
| XM_011522479.1:c.4107C>T | XP_011520781.1:p.Leu1369= | |
| XM_011522480.1:c.3798C>T | XP_011520782.1:p.Leu1266= | |
| XM_011522481.1:c.3798C>T | XP_011520783.1:p.Leu1266= | |
| XR_933134.1:n.539-5085G>A | ||
| NM_001351800.1:c.3798C>T | NP_001338729.1:p.Leu1266= | |
| NR_147784.1:n.3802C>T | ||
| XM_011522479.2:c.4107C>T | XP_011520781.1:p.Leu1369= | |
| XM_011522481.3:c.3798C>T | XP_011520783.1:p.Leu1266= | |
| XM_017023212.1:c.3972C>T | XP_016878701.1:p.Leu1324= | |
| XM_024450261.1:c.4176C>T | XP_024306029.1:p.Leu1392= | |
| NM_001171.6:c.4140C>T MANE Select | NP_001162.5:p.Leu1380= |