Linked Data
dbSNP Id:
rs778409364
ExAC:
12:91449316 T / G
gnomAD v2:
12-91449316-T-G
gnomAD v4:
12-91055539-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91055539T>G , CM000674.2:g.91055539T>G | GRCh38 |
| NC_000012.11:g.91449316T>G , CM000674.1:g.91449316T>G | GRCh37 |
| NC_000012.10:g.89973447T>G | NCBI36 |
| NG_021223.1:g.7816A>C , LRG_538:g.7816A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266719.4:c.743A>C MANE Select | ENSP00000266719.3:p.Lys248Thr | |
| ENST00000266719.3:c.743A>C | ENSP00000266719.3:p.Lys248Thr | |
| NM_007035.3:c.743A>C , LRG_538t1:c.743A>C | NP_008966.1:p.Lys248Thr | |
| XM_011537781.1:c.743A>C | XP_011536083.1:p.Lys248Thr | |
| NM_007035.4:c.743A>C MANE Select | NP_008966.1:p.Lys248Thr |