Linked Data
ClinVar Variation Id:
433257
ClinVar RCV Id:
RCV000499026
dbSNP Id:
rs72653782
PubMed:
PMID:16086317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16182844A>G , CM000678.2:g.16182844A>G | GRCh38 |
| NC_000016.9:g.16276701A>G , CM000678.1:g.16276701A>G | GRCh37 |
| NC_000016.8:g.16184202A>G | NCBI36 |
| NG_007558.2:g.45628T>C | |
| NG_007558.3:g.45774T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2030T>C | ENSP00000483331.2:p.Leu677Pro | |
| ENST00000205557.12:c.2030T>C MANE Select | ENSP00000205557.7:p.Leu677Pro | |
| ENST00000205557.11:c.2030T>C | ENSP00000205557.7:p.Leu677Pro | |
| ENST00000456970.6:c.2030T>C | ENSP00000405002.2:p.Leu677Pro | |
| ENST00000574094.5:n.2040-919T>C | ||
| ENST00000622290.4:c.2030T>C | ENSP00000483331.1:p.Leu677Pro | |
| NM_001171.5:c.2030T>C | NP_001162.4:p.Leu677Pro | |
| XM_011522479.1:c.2030T>C | XP_011520781.1:p.Leu677Pro | |
| XM_011522480.1:c.1688T>C | XP_011520782.1:p.Leu563Pro | |
| XM_011522481.1:c.1688T>C | XP_011520783.1:p.Leu563Pro | |
| XM_011522482.1:c.2030T>C | XP_011520784.1:p.Leu677Pro | |
| XR_932836.1:n.2265T>C | ||
| XR_932837.1:n.2266T>C | ||
| XR_932838.1:n.2266T>C | ||
| NM_001351800.1:c.1688T>C | NP_001338729.1:p.Leu563Pro | |
| NR_147784.1:n.2067T>C | ||
| XM_011522479.2:c.2030T>C | XP_011520781.1:p.Leu677Pro | |
| XM_011522481.3:c.1688T>C | XP_011520783.1:p.Leu563Pro | |
| XM_011522482.3:c.2030T>C | XP_011520784.1:p.Leu677Pro | |
| XM_017023212.1:c.2030T>C | XP_016878701.1:p.Leu677Pro | |
| XM_017023214.1:c.2030T>C | XP_016878703.1:p.Leu677Pro | |
| XM_024450261.1:c.2066T>C | XP_024306029.1:p.Leu689Pro | |
| XR_932836.2:n.2211T>C | ||
| XR_932837.3:n.2211T>C | ||
| XR_932838.3:n.2211T>C | ||
| NM_001171.6:c.2030T>C MANE Select | NP_001162.5:p.Leu677Pro |