Linked Data
ClinVar Variation Id:
16804
ClinVar RCV Id:
RCV000018295
dbSNP Id:
rs267606767
gnomAD v2:
16-72055110-G-C
gnomAD v4:
16-72021211-G-C
PubMed:
PMID:19915526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72021211G>C , CM000678.2:g.72021211G>C | GRCh38 |
| NC_000016.9:g.72055110G>C , CM000678.1:g.72055110G>C | GRCh37 |
| NC_000016.8:g.70612611G>C | NCBI36 |
| NG_016271.1:g.17468G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.605G>C MANE Select | ENSP00000219240.4:p.Gly202Ala | |
| ENST00000219240.8:c.605G>C | ENSP00000219240.4:p.Gly202Ala | |
| ENST00000571392.1:n.1485-1954G>C | ||
| ENST00000572003.5:n.522G>C | ||
| ENST00000572887.5:c.605G>C | ENSP00000461848.1:p.Gly202Ala | |
| ENST00000573922.5:n.314-1954G>C | ||
| ENST00000574309.5:c.514-2934G>C | ||
| NM_001361.4:c.605G>C | NP_001352.2:p.Gly202Ala | |
| XM_005255827.2:c.521G>C | XP_005255884.1:p.Gly174Ala | |
| XM_005255828.3:c.197G>C | XP_005255885.1:p.Gly66Ala | |
| XM_005255829.2:c.176G>C | XP_005255886.1:p.Gly59Ala | |
| XM_005255827.4:c.521G>C | XP_005255884.1:p.Gly174Ala | |
| XM_005255829.4:c.176G>C | XP_005255886.1:p.Gly59Ala | |
| XM_017022990.2:c.278G>C | XP_016878479.1:p.Gly93Ala | |
| NM_001361.5:c.605G>C MANE Select | NP_001352.2:p.Gly202Ala |