Linked Data
ClinVar Variation Id:
2966669
ClinVar RCV Id:
RCV003828803
dbSNP Id:
rs2040250996
gnomAD v4:
17-12992845-T-C
MyVariant Identifiers:
chr17:g.12896162T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992845T>C , CM000679.2:g.12992845T>C | GRCh38 |
| NC_000017.10:g.12896162T>C , CM000679.1:g.12896162T>C | GRCh37 |
| NC_000017.9:g.12836887T>C | NCBI36 |
| NG_015808.1:g.30220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2454A>G MANE Select | ENSP00000337445.4:p.Pro818= | |
| ENST00000338034.8:c.2454A>G | ENSP00000337445.4:p.Pro818= | |
| ENST00000395962.6:c.2397A>G | ENSP00000379291.1:p.Pro799= | |
| ENST00000426905.7:c.2334A>G | ENSP00000405223.3:p.Pro778= | |
| ENST00000465825.5:n.2341A>G | ||
| ENST00000480891.5:n.2283A>G | ||
| ENST00000484122.5:n.3284A>G | ||
| ENST00000487229.6:n.2000A>G | ||
| ENST00000584650.5:c.1853A>G | ||
| NM_001165962.1:c.2334A>G | NP_001159434.1:p.Pro778= | |
| NM_018127.6:c.2454A>G | NP_060597.4:p.Pro818= | |
| NM_173717.1:c.2451A>G | NP_776065.1:p.Pro817= | |
| XM_024450850.1:c.2613A>G | XP_024306618.1:p.Pro871= | |
| XM_024450851.1:c.2535A>G | XP_024306619.1:p.Pro845= | |
| XM_024450852.1:c.2532A>G | XP_024306620.1:p.Pro844= | |
| XM_024450853.1:c.2529A>G | XP_024306621.1:p.Pro843= | |
| XM_024450854.1:c.2493A>G | XP_024306622.1:p.Pro831= | |
| XM_024450855.1:c.2412A>G | XP_024306623.1:p.Pro804= | |
| XM_024450856.1:c.2331A>G | XP_024306624.1:p.Pro777= | |
| XM_024450857.1:c.2331A>G | XP_024306625.1:p.Pro777= | |
| XM_024450858.1:c.2250A>G | XP_024306626.1:p.Pro750= | |
| XM_024450859.1:c.2247A>G | XP_024306627.1:p.Pro749= | |
| XM_024450860.1:c.2172A>G | XP_024306628.1:p.Pro724= | |
| XM_024450861.1:c.2172A>G | XP_024306629.1:p.Pro724= | |
| XM_024450862.1:c.2169A>G | XP_024306630.1:p.Pro723= | |
| NM_018127.7:c.2454A>G MANE Select | NP_060597.4:p.Pro818= | |
| NM_001165962.2:c.2334A>G | NP_001159434.1:p.Pro778= | |
| NM_173717.2:c.2451A>G | NP_776065.1:p.Pro817= |