Linked Data
ClinVar Variation Id:
433367
dbSNP Id:
rs63750135
ExAC:
16:16244054 G / A
gnomAD v2:
16-16244054-G-A
gnomAD v3:
16-16150197-G-A
gnomAD v4:
16-16150197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150197G>A , CM000678.2:g.16150197G>A | GRCh38 |
| NC_000016.9:g.16244054G>A , CM000678.1:g.16244054G>A | GRCh37 |
| NC_000016.8:g.16151555G>A | NCBI36 |
| NG_007558.2:g.78275C>T | |
| NG_007558.3:g.78421C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.*620C>T | ENSP00000483331.2:n.*620C>T | |
| ENST00000205557.12:c.4448C>T MANE Select | ENSP00000205557.7:p.Pro1483Leu | |
| ENST00000640696.1:c.1262C>T | ENSP00000492197.1:p.Pro421Leu | |
| ENST00000205557.11:c.4448C>T | ENSP00000205557.7:p.Pro1483Leu | |
| ENST00000456970.6:c.4073C>T | ENSP00000405002.2:n.4073C>T | |
| ENST00000576204.5:n.1311C>T | ||
| ENST00000622290.4:c.*1657C>T | ENSP00000483331.1:n.*1657C>T | |
| NM_001171.5:c.4448C>T | NP_001162.4:p.Pro1483Leu | |
| XM_011522479.1:c.4415C>T | XP_011520781.1:p.Pro1472Leu | |
| XM_011522480.1:c.4106C>T | XP_011520782.1:p.Pro1369Leu | |
| XM_011522481.1:c.4106C>T | XP_011520783.1:p.Pro1369Leu | |
| XR_933134.1:n.538+5907G>A | ||
| NM_001351800.1:c.4106C>T | NP_001338729.1:p.Pro1369Leu | |
| NR_147784.1:n.4110C>T | ||
| XM_011522479.2:c.4415C>T | XP_011520781.1:p.Pro1472Leu | |
| XM_011522481.3:c.4106C>T | XP_011520783.1:p.Pro1369Leu | |
| XM_017023212.1:c.4280C>T | XP_016878701.1:p.Pro1427Leu | |
| XM_024450261.1:c.4484C>T | XP_024306029.1:p.Pro1495Leu | |
| NM_001171.6:c.4448C>T MANE Select | NP_001162.5:p.Pro1483Leu |