Linked Data
ClinVar Variation Id:
1607264
ClinVar RCV Id:
RCV002162645
dbSNP Id:
rs911422224
gnomAD v3:
17-8121649-T-C
gnomAD v4:
17-8121649-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121649T>C , CM000679.2:g.8121649T>C | GRCh38 |
| NC_000017.10:g.8024967T>C , CM000679.1:g.8024967T>C | GRCh37 |
| NC_000017.9:g.7965692T>C | NCBI36 |
| NG_015807.1:g.2268A>G | |
| NG_015816.1:g.7444A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.615A>G MANE Select | ENSP00000446205.2:p.Pro205= | |
| ENST00000317814.8:c.600A>G | ENSP00000314774.4:p.Pro200= | |
| ENST00000541682.6:c.615A>G | ENSP00000446205.2:p.Pro205= | |
| NM_001165967.1:c.615A>G | NP_001159439.1:p.Pro205= | |
| NM_032580.3:c.600A>G | NP_115969.2:p.Pro200= | |
| XM_011524038.1:c.720A>G | XP_011522340.1:p.Pro240= | |
| XM_011524039.1:c.711A>G | XP_011522341.1:p.Pro237= | |
| XM_011524040.1:c.711A>G | XP_011522342.1:p.Pro237= | |
| XM_011524041.1:c.702A>G | XP_011522343.1:p.Pro234= | |
| XM_011524042.1:c.573A>G | XP_011522344.1:p.Pro191= | |
| XR_934203.1:n.69+1835T>C | ||
| XM_017025232.1:c.720A>G | XP_016880721.1:p.Pro240= | |
| XM_024451007.1:c.720A>G | XP_024306775.1:p.Pro240= | |
| NM_001165967.2:c.615A>G MANE Select | NP_001159439.1:p.Pro205= | |
| NM_032580.4:c.600A>G | NP_115969.2:p.Pro200= |