Linked Data
dbSNP Id:
rs1181491256
gnomAD v2:
11-116693468-G-C
gnomAD v3:
11-116822752-G-C
gnomAD v4:
11-116822752-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822752G>C , CM000673.2:g.116822752G>C | GRCh38 |
| NC_000011.9:g.116693468G>C , CM000673.1:g.116693468G>C | GRCh37 |
| NC_000011.8:g.116198678G>C | NCBI36 |
| NG_012044.1:g.5544C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.83C>G MANE Select | ENSP00000350425.3:p.Ala28Gly | |
| ENST00000357780.4:c.83C>G | ENSP00000350425.3:p.Ala28Gly | |
| NM_000482.3:c.83C>G | NP_000473.2:p.Ala28Gly | |
| NM_000482.4:c.83C>G MANE Select | NP_000473.2:p.Ala28Gly |