Linked Data
dbSNP Id:
rs2074234
ExAC:
11:2432964 T / C
gnomAD v2:
11-2432964-T-C
gnomAD v3:
11-2411734-T-C
gnomAD v4:
11-2411734-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2411734T>C , CM000673.2:g.2411734T>C | GRCh38 |
| NC_000011.9:g.2432964T>C , CM000673.1:g.2432964T>C | GRCh37 |
| NC_000011.8:g.2389540T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696290.1:c.2508A>G MANE Select | ENSP00000512529.1:p.Thr836= | |
| ENST00000155858.10:c.2508A>G | ENSP00000155858.5:p.Thr836= | |
| ENST00000528453.1:c.2508A>G | ENSP00000436809.1:p.Thr836= | |
| ENST00000533060.5:c.2508A>G | ENSP00000434121.1:p.Thr836= | |
| ENST00000533881.5:c.2490A>G | ENSP00000434383.1:p.Thr830= | |
| NM_014555.3:c.2508A>G | NP_055370.1:p.Thr836= | |
| XM_011520035.1:c.2769A>G | XP_011518337.1:p.Thr923= | |
| XM_017017628.1:c.2562A>G | XP_016873117.1:p.Thr854= | |
| NM_014555.4:c.2508A>G MANE Select | NP_055370.1:p.Thr836= |