Linked Data
ClinVar Variation Id:
770007
ClinVar RCV Id:
RCV000949104
dbSNP Id:
rs983944490
gnomAD v2:
21-38120093-G-C
gnomAD v3:
21-36747792-G-C
gnomAD v4:
21-36747792-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36747792G>C , CM000683.2:g.36747792G>C | GRCh38 |
| NC_000021.8:g.38120093G>C , CM000683.1:g.38120093G>C | GRCh37 |
| NC_000021.7:g.37041963G>C | NCBI36 |
| NG_029519.1:g.53103G>C | |
| NG_016193.2:g.247603C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290399.11:c.1704G>C MANE Select | ENSP00000290399.6:p.Gly568= | |
| ENST00000290399.10:c.1704G>C | ENSP00000290399.6:p.Gly568= | |
| NM_005069.4:c.1704G>C | NP_005060.1:p.Gly568= | |
| XM_011529694.1:c.1401G>C | XP_011527996.1:p.Gly467= | |
| XM_011529695.1:c.1299G>C | XP_011527997.1:p.Gly433= | |
| NM_005069.5:c.1704G>C | NP_005060.1:p.Gly568= | |
| NM_005069.6:c.1704G>C MANE Select | NP_005060.1:p.Gly568= |