Linked Data
ClinVar Variation Id:
1538372
ClinVar RCV Id:
RCV002159812
dbSNP Id:
rs759128201
ExAC:
16:16263699 T / C
gnomAD v2:
16-16263699-T-C
gnomAD v4:
16-16169842-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169842T>C , CM000678.2:g.16169842T>C | GRCh38 |
| NC_000016.9:g.16263699T>C , CM000678.1:g.16263699T>C | GRCh37 |
| NC_000016.8:g.16171200T>C | NCBI36 |
| NG_007558.2:g.58630A>G | |
| NG_007558.3:g.58776A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2799A>G | ENSP00000483331.2:p.Thr933= | |
| ENST00000205557.12:c.2799A>G MANE Select | ENSP00000205557.7:p.Thr933= | |
| ENST00000205557.11:c.2799A>G | ENSP00000205557.7:p.Thr933= | |
| ENST00000456970.6:c.2624A>G | ENSP00000405002.2:n.2624A>G | |
| ENST00000622290.4:c.*8A>G | ENSP00000483331.1:n.*8A>G | |
| NM_001171.5:c.2799A>G | NP_001162.4:p.Thr933= | |
| XM_011522479.1:c.2766A>G | XP_011520781.1:p.Thr922= | |
| XM_011522480.1:c.2457A>G | XP_011520782.1:p.Thr819= | |
| XM_011522481.1:c.2457A>G | XP_011520783.1:p.Thr819= | |
| XR_932836.1:n.3034A>G | ||
| XR_932837.1:n.3035A>G | ||
| XR_932838.1:n.3035A>G | ||
| NM_001351800.1:c.2457A>G | NP_001338729.1:p.Thr819= | |
| NR_147784.1:n.2661A>G | ||
| XM_011522479.2:c.2766A>G | XP_011520781.1:p.Thr922= | |
| XM_011522481.3:c.2457A>G | XP_011520783.1:p.Thr819= | |
| XM_017023212.1:c.2631A>G | XP_016878701.1:p.Thr877= | |
| XM_017023214.1:c.2799A>G | XP_016878703.1:p.Thr933= | |
| XM_024450261.1:c.2835A>G | XP_024306029.1:p.Thr945= | |
| XR_932836.2:n.2980A>G | ||
| XR_932837.3:n.2980A>G | ||
| XR_932838.3:n.2980A>G | ||
| NM_001171.6:c.2799A>G MANE Select | NP_001162.5:p.Thr933= |