Linked Data
dbSNP Id:
rs779438352
ExAC:
16:2335565 T / C
gnomAD v2:
16-2335565-T-C
gnomAD v3:
16-2285564-T-C
gnomAD v4:
16-2285564-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285564T>C , CM000678.2:g.2285564T>C | GRCh38 |
| NC_000016.9:g.2335565T>C , CM000678.1:g.2335565T>C | GRCh37 |
| NC_000016.8:g.2275566T>C | NCBI36 |
| NG_011790.1:g.60183A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3361A>G MANE Select | ENSP00000301732.5:p.Ser1121Gly | |
| ENST00000301732.9:c.3361A>G | ENSP00000301732.5:p.Ser1121Gly | |
| ENST00000382381.7:c.3187A>G | ENSP00000371818.3:p.Ser1063Gly | |
| NM_001089.2:c.3361A>G | NP_001080.2:p.Ser1121Gly | |
| NM_001089.3:c.3361A>G MANE Select | NP_001080.2:p.Ser1121Gly |