Linked Data
ClinVar Variation Id:
2724668
ClinVar RCV Id:
RCV003518478
dbSNP Id:
rs1375038120
gnomAD v3:
17-50194752-G-C
gnomAD v4:
17-50194752-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194752G>C , CM000679.2:g.50194752G>C | GRCh38 |
| NC_000017.10:g.48272113G>C , CM000679.1:g.48272113G>C | GRCh37 |
| NC_000017.9:g.45627112G>C | NCBI36 |
| NG_007400.1:g.11888C>G , LRG_1:g.11888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1430C>G MANE Select | ENSP00000225964.6:p.Pro477Arg | |
| ENST00000225964.9:c.1430C>G | ENSP00000225964.5:p.Pro477Arg | |
| ENST00000471344.1:n.374C>G | ||
| NM_000088.3:c.1430C>G , LRG_1t1:c.1430C>G | NP_000079.2:p.Pro477Arg | |
| XM_005257058.3:c.1430C>G | XP_005257115.2:p.Pro477Arg | |
| XM_005257059.3:c.957+1562C>G | XP_005257116.2:n.957+1562C>G | |
| XM_011524341.1:c.1232C>G | XP_011522643.1:p.Pro411Arg | |
| XM_005257058.4:c.1430C>G | XP_005257115.2:p.Pro477Arg | |
| XM_005257059.4:c.957+1562C>G | XP_005257116.2:n.957+1562C>G | |
| NM_000088.4:c.1430C>G MANE Select | NP_000079.2:p.Pro477Arg |