Linked Data
ClinVar Variation Id:
189341
ClinVar RCV Id:
RCV000169757
dbSNP Id:
rs786204846
gnomAD v2:
4-119649741-T-G
gnomAD v4:
4-118728586-T-G
PubMed:
PMID:25683121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118728586T>G , CM000666.2:g.118728586T>G | GRCh38 |
| NC_000004.11:g.119649741T>G , CM000666.1:g.119649741T>G | GRCh37 |
| NC_000004.10:g.119869189T>G | NCBI36 |
| NG_042032.1:g.112586A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2933A>C MANE Select | ENSP00000280551.6:p.Gln978Pro | |
| ENST00000280551.10:c.2933A>C | ENSP00000280551.6:p.Gln978Pro | |
| ENST00000502830.1:n.262A>C | ||
| ENST00000505134.5:n.3064A>C | ||
| ENST00000511481.5:c.1826A>C | ENSP00000425491.1:p.Gln609Pro | |
| NM_014822.2:c.2933A>C | NP_055637.2:p.Gln978Pro | |
| XM_005263378.1:c.2936A>C | XP_005263435.1:p.Gln979Pro | |
| XM_005263379.1:c.2936A>C | XP_005263436.1:p.Gln979Pro | |
| XM_011532435.1:c.2936A>C | XP_011530737.1:p.Gln979Pro | |
| XM_011532437.1:c.1601A>C | XP_011530739.1:p.Gln534Pro | |
| NM_001318066.1:c.2936A>C | NP_001304995.1:p.Gln979Pro | |
| NM_014822.3:c.2933A>C | NP_055637.2:p.Gln978Pro | |
| XM_005263379.3:c.2936A>C | XP_005263436.1:p.Gln979Pro | |
| XM_017008875.1:c.1601A>C | XP_016864364.1:p.Gln534Pro | |
| XM_024454293.1:c.2933A>C | XP_024310061.1:p.Gln978Pro | |
| NM_014822.4:c.2933A>C MANE Select | NP_055637.2:p.Gln978Pro | |
| NM_001318066.2:c.2936A>C | NP_001304995.1:p.Gln979Pro |