Linked Data
ClinVar Variation Id:
379215
dbSNP Id:
rs58694313
ExAC:
16:16251531 C / T
gnomAD v2:
16-16251531-C-T
gnomAD v3:
16-16157674-C-T
gnomAD v4:
16-16157674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157674C>T , CM000678.2:g.16157674C>T | GRCh38 |
| NC_000016.9:g.16251531C>T , CM000678.1:g.16251531C>T | GRCh37 |
| NC_000016.8:g.16159032C>T | NCBI36 |
| NG_007558.2:g.70798G>A | |
| NG_007558.3:g.70944G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3871G>A | ENSP00000483331.2:p.Ala1291Thr | |
| ENST00000205557.12:c.3871G>A MANE Select | ENSP00000205557.7:p.Ala1291Thr | |
| ENST00000640696.1:c.685G>A | ENSP00000492197.1:p.Ala229Thr | |
| ENST00000205557.11:c.3871G>A | ENSP00000205557.7:p.Ala1291Thr | |
| ENST00000456970.6:c.3496G>A | ENSP00000405002.2:n.3496G>A | |
| ENST00000622290.4:c.*1080G>A | ENSP00000483331.1:n.*1080G>A | |
| NM_001171.5:c.3871G>A | NP_001162.4:p.Ala1291Thr | |
| XM_011522479.1:c.3838G>A | XP_011520781.1:p.Ala1280Thr | |
| XM_011522480.1:c.3529G>A | XP_011520782.1:p.Ala1177Thr | |
| XM_011522481.1:c.3529G>A | XP_011520783.1:p.Ala1177Thr | |
| XR_932836.1:n.4106G>A | ||
| XR_932837.1:n.3907G>A | ||
| XR_932838.1:n.3907G>A | ||
| XR_933134.1:n.539-2107C>T | ||
| NM_001351800.1:c.3529G>A | NP_001338729.1:p.Ala1177Thr | |
| NR_147784.1:n.3533G>A | ||
| XM_011522479.2:c.3838G>A | XP_011520781.1:p.Ala1280Thr | |
| XM_011522481.3:c.3529G>A | XP_011520783.1:p.Ala1177Thr | |
| XM_017023212.1:c.3703G>A | XP_016878701.1:p.Ala1235Thr | |
| XM_024450261.1:c.3907G>A | XP_024306029.1:p.Ala1303Thr | |
| XR_932836.2:n.4052G>A | ||
| XR_932837.3:n.3852G>A | ||
| XR_932838.3:n.3852G>A | ||
| NM_001171.6:c.3871G>A MANE Select | NP_001162.5:p.Ala1291Thr |