Linked Data
ClinVar Variation Id:
3226938
ClinVar RCV Id:
RCV004522104
dbSNP Id:
rs1321499476
gnomAD v2:
11-65635998-G-C
gnomAD v4:
11-65868527-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868527G>C , CM000673.2:g.65868527G>C | GRCh38 |
| NC_000011.9:g.65635998G>C , CM000673.1:g.65635998G>C | GRCh37 |
| NC_000011.8:g.65392574G>C | NCBI36 |
| NG_012304.2:g.9408C>G | |
| NG_053116.1:g.13466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.830C>G MANE Select | ENSP00000309953.6:p.Ala277Gly | |
| ENST00000307998.10:c.830C>G | ENSP00000309953.6:p.Ala277Gly | |
| ENST00000526628.5:n.1396C>G | ||
| ENST00000527969.1:n.1515C>G | ||
| ENST00000528176.5:c.830C>G | ENSP00000434151.1:p.Ala277Gly | |
| ENST00000530806.5:c.-169C>G | ENSP00000436526.1:n.-169C>G | |
| ENST00000531005.5:n.1824C>G | ||
| ENST00000531972.5:c.830C>G | ENSP00000435295.1:p.Ala277Gly | |
| ENST00000532084.5:n.256C>G | ||
| NM_016938.4:c.830C>G | NP_058634.4:p.Ala277Gly | |
| NR_037718.1:n.1089C>G | ||
| NM_016938.5:c.830C>G MANE Select | NP_058634.4:p.Ala277Gly | |
| NR_037718.2:n.955C>G |