Linked Data
dbSNP Id:
rs780504422
ExAC:
16:16248761 G / T
gnomAD v2:
16-16248761-G-T
gnomAD v4:
16-16154904-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154904G>T , CM000678.2:g.16154904G>T | GRCh38 |
| NC_000016.9:g.16248761G>T , CM000678.1:g.16248761G>T | GRCh37 |
| NC_000016.8:g.16156262G>T | NCBI36 |
| NG_007558.2:g.73568C>A | |
| NG_007558.3:g.73714C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.873C>A | ||
| ENST00000622290.5:c.*182C>A | ENSP00000483331.2:n.*182C>A | |
| ENST00000205557.12:c.4010C>A MANE Select | ENSP00000205557.7:p.Thr1337Lys | |
| ENST00000640696.1:c.824C>A | ENSP00000492197.1:p.Thr275Lys | |
| ENST00000205557.11:c.4010C>A | ENSP00000205557.7:p.Thr1337Lys | |
| ENST00000456970.6:c.3635C>A | ENSP00000405002.2:n.3635C>A | |
| ENST00000576204.5:n.873C>A | ||
| ENST00000622290.4:c.*1219C>A | ENSP00000483331.1:n.*1219C>A | |
| NM_001171.5:c.4010C>A | NP_001162.4:p.Thr1337Lys | |
| XM_011522479.1:c.3977C>A | XP_011520781.1:p.Thr1326Lys | |
| XM_011522480.1:c.3668C>A | XP_011520782.1:p.Thr1223Lys | |
| XM_011522481.1:c.3668C>A | XP_011520783.1:p.Thr1223Lys | |
| XR_933134.1:n.539-4877G>T | ||
| NM_001351800.1:c.3668C>A | NP_001338729.1:p.Thr1223Lys | |
| NR_147784.1:n.3672C>A | ||
| XM_011522479.2:c.3977C>A | XP_011520781.1:p.Thr1326Lys | |
| XM_011522481.3:c.3668C>A | XP_011520783.1:p.Thr1223Lys | |
| XM_017023212.1:c.3842C>A | XP_016878701.1:p.Thr1281Lys | |
| XM_024450261.1:c.4046C>A | XP_024306029.1:p.Thr1349Lys | |
| NM_001171.6:c.4010C>A MANE Select | NP_001162.5:p.Thr1337Lys |