Linked Data
ClinVar Variation Id:
11039
ClinVar RCV Id:
RCV000011786
dbSNP Id:
rs132630316
PubMed:
PMID:9683615
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70028001G>C , CM000685.2:g.70028001G>C | GRCh38 |
| NC_000023.10:g.69247851G>C , CM000685.1:g.69247851G>C | GRCh37 |
| NC_000023.9:g.69164576G>C | NCBI36 |
| NG_009809.1:g.416941G>C | |
| NG_009809.2:g.416935G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374552.9:c.671G>C MANE Select | ENSP00000363680.4:p.Gly224Ala | |
| ENST00000374552.8:c.671G>C | ENSP00000363680.4:p.Gly224Ala | |
| ENST00000374553.6:c.671G>C | ENSP00000363681.2:p.Gly224Ala | |
| ENST00000503592.5:c.275G>C | ENSP00000423037.1:p.Gly92Ala | |
| ENST00000524573.5:c.671G>C | ENSP00000432585.1:p.Gly224Ala | |
| ENST00000616899.1:c.275G>C | ENSP00000481963.1:p.Gly92Ala | |
| NM_001005609.1:c.671G>C | NP_001005609.1:p.Gly224Ala | |
| NM_001005612.2:c.671G>C | NP_001005612.2:p.Gly224Ala | |
| NM_001399.4:c.671G>C | NP_001390.1:p.Gly224Ala | |
| XM_006724630.2:c.671G>C | XP_006724693.1:p.Gly224Ala | |
| XM_011530885.1:c.671G>C | XP_011529187.1:p.Gly224Ala | |
| XM_011530885.2:c.671G>C | XP_011529187.1:p.Gly224Ala | |
| XM_017029336.1:c.671G>C | XP_016884825.1:p.Gly224Ala | |
| NM_001399.5:c.671G>C MANE Select | NP_001390.1:p.Gly224Ala | |
| NM_001005609.2:c.671G>C | NP_001005609.1:p.Gly224Ala | |
| NM_001005612.3:c.671G>C | NP_001005612.2:p.Gly224Ala |