Linked Data
dbSNP Id:
rs568177600
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227060C>G , CM000664.2:g.29227060C>G | GRCh38 |
| NC_000002.11:g.29449926C>G , CM000664.1:g.29449926C>G | GRCh37 |
| NC_000002.10:g.29303430C>G | NCBI36 |
| NG_009445.1:g.699507G>C , LRG_488:g.699507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2929G>C MANE Select | ENSP00000373700.3:p.Gly977Arg | |
| ENST00000431873.6:c.95G>C | ||
| ENST00000389048.7:c.2929G>C | ENSP00000373700.3:p.Gly977Arg | |
| ENST00000618119.4:c.1798G>C | ENSP00000482733.1:p.Gly600Arg | |
| NM_004304.4:c.2929G>C | NP_004295.2:p.Gly977Arg | |
| XM_024452778.1:c.82G>C | XP_024308546.1:p.Gly28Arg | |
| XR_001738688.2:n.3785G>C | ||
| NM_004304.5:c.2929G>C MANE Select | NP_004295.2:p.Gly977Arg |