Linked Data
ClinVar Variation Id:
218424
ClinVar RCV Id:
RCV000224220
RCV000203035
RCV000487429
RCV000659348
RCV001082142
RCV001124960
RCV001124961
RCV002354572
RCV002277557
dbSNP Id:
rs72667032
ExAC:
17:48275339 G / C
gnomAD v2:
17-48275339-G-C
gnomAD v3:
17-50197978-G-C
gnomAD v4:
17-50197978-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50197978G>C , CM000679.2:g.50197978G>C | GRCh38 |
| NC_000017.10:g.48275339G>C , CM000679.1:g.48275339G>C | GRCh37 |
| NC_000017.9:g.45630338G>C | NCBI36 |
| NG_007400.1:g.8662C>G , LRG_1:g.8662C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.613C>G MANE Select | ENSP00000225964.6:p.Pro205Ala | |
| ENST00000225964.9:c.613C>G | ENSP00000225964.5:p.Pro205Ala | |
| ENST00000495677.1:n.340C>G | ||
| NM_000088.3:c.613C>G , LRG_1t1:c.613C>G | NP_000079.2:p.Pro205Ala | |
| XM_005257058.3:c.613C>G | XP_005257115.2:p.Pro205Ala | |
| XM_005257059.3:c.613C>G | XP_005257116.2:p.Pro205Ala | |
| XM_011524341.1:c.613C>G | XP_011522643.1:p.Pro205Ala | |
| XM_005257058.4:c.613C>G | XP_005257115.2:p.Pro205Ala | |
| XM_005257059.4:c.613C>G | XP_005257116.2:p.Pro205Ala | |
| NM_000088.4:c.613C>G MANE Select | NP_000079.2:p.Pro205Ala |