Linked Data
ClinVar Variation Id:
1732207
ClinVar RCV Id:
RCV002459263
dbSNP Id:
rs2148166741
gnomAD v4:
2-29220835-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220835G>C , CM000664.2:g.29220835G>C | GRCh38 |
| NC_000002.11:g.29443701G>C , CM000664.1:g.29443701G>C | GRCh37 |
| NC_000002.10:g.29297205G>C | NCBI36 |
| NG_009445.1:g.705732C>G , LRG_488:g.705732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3516C>G MANE Select | ENSP00000373700.3:p.Ser1172Arg | |
| ENST00000431873.6:c.743C>G | ||
| ENST00000638605.1:n.393C>G | ||
| ENST00000642122.1:c.312C>G | ENSP00000493203.1:p.Ser104Arg | |
| ENST00000389048.7:c.3516C>G | ENSP00000373700.3:p.Ser1172Arg | |
| ENST00000431873.5:c.396C>G | ENSP00000414027.2:p.Ser132Arg | |
| ENST00000618119.4:c.2385C>G | ENSP00000482733.1:p.Ser795Arg | |
| NM_004304.4:c.3516C>G | NP_004295.2:p.Ser1172Arg | |
| NM_001353765.1:c.312C>G | NP_001340694.1:p.Ser104Arg | |
| XM_024452778.1:c.669C>G | XP_024308546.1:p.Ser223Arg | |
| XM_024452779.1:c.312C>G | XP_024308547.1:p.Ser104Arg | |
| NM_004304.5:c.3516C>G MANE Select | NP_004295.2:p.Ser1172Arg | |
| NM_001353765.2:c.312C>G | NP_001340694.1:p.Ser104Arg |