Linked Data
dbSNP Id:
rs145385373
gnomAD v2:
10-48414136-G-C
gnomAD v3:
10-47325226-C-G
gnomAD v4:
10-47325226-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325226C>G , CM000672.2:g.47325226C>G | GRCh38 |
| NC_000010.10:g.48414136G>C , CM000672.1:g.48414136G>C | GRCh37 |
| NC_000010.9:g.48034142G>C | NCBI36 |
| NG_033916.1:g.7737C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.732C>G MANE Select | ENSP00000463051.1:p.Val244= | |
| ENST00000581492.2:c.732C>G | ENSP00000463051.1:p.Val244= | |
| NM_016204.2:c.732C>G | NP_057288.1:p.Val244= | |
| XM_006717761.2:c.732C>G | XP_006717824.1:p.Val244= | |
| NM_016204.3:c.732C>G | NP_057288.1:p.Val244= | |
| NM_016204.4:c.732C>G MANE Select | NP_057288.1:p.Val244= |