Linked Data
dbSNP Id:
rs782814945
ExAC:
10:48414050 C / G
gnomAD v2:
10-48414050-C-G
gnomAD v4:
10-47325312-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325312G>C , CM000672.2:g.47325312G>C | GRCh38 |
| NC_000010.10:g.48414050C>G , CM000672.1:g.48414050C>G | GRCh37 |
| NC_000010.9:g.48034056C>G | NCBI36 |
| NG_033916.1:g.7823G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.818G>C MANE Select | ENSP00000463051.1:p.Arg273Thr | |
| ENST00000581492.2:c.818G>C | ENSP00000463051.1:p.Arg273Thr | |
| NM_016204.2:c.818G>C | NP_057288.1:p.Arg273Thr | |
| XM_006717761.2:c.818G>C | XP_006717824.1:p.Arg273Thr | |
| NM_016204.3:c.818G>C | NP_057288.1:p.Arg273Thr | |
| NM_016204.4:c.818G>C MANE Select | NP_057288.1:p.Arg273Thr |