Linked Data
ClinVar Variation Id:
433500
ClinVar RCV Id:
RCV000499353
dbSNP Id:
rs1555510407
PubMed:
PMID:26084751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169798A>G , CM000678.2:g.16169798A>G | GRCh38 |
| NC_000016.9:g.16263655A>G , CM000678.1:g.16263655A>G | GRCh37 |
| NC_000016.8:g.16171156A>G | NCBI36 |
| NG_007558.2:g.58674T>C | |
| NG_007558.3:g.58820T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2843T>C | ENSP00000483331.2:p.Leu948Pro | |
| ENST00000205557.12:c.2843T>C MANE Select | ENSP00000205557.7:p.Leu948Pro | |
| ENST00000205557.11:c.2843T>C | ENSP00000205557.7:p.Leu948Pro | |
| ENST00000456970.6:c.2668T>C | ENSP00000405002.2:n.2668T>C | |
| ENST00000622290.4:c.*52T>C | ENSP00000483331.1:n.*52T>C | |
| NM_001171.5:c.2843T>C | NP_001162.4:p.Leu948Pro | |
| XM_011522479.1:c.2810T>C | XP_011520781.1:p.Leu937Pro | |
| XM_011522480.1:c.2501T>C | XP_011520782.1:p.Leu834Pro | |
| XM_011522481.1:c.2501T>C | XP_011520783.1:p.Leu834Pro | |
| XR_932836.1:n.3078T>C | ||
| XR_932837.1:n.3079T>C | ||
| XR_932838.1:n.3079T>C | ||
| NM_001351800.1:c.2501T>C | NP_001338729.1:p.Leu834Pro | |
| NR_147784.1:n.2705T>C | ||
| XM_011522479.2:c.2810T>C | XP_011520781.1:p.Leu937Pro | |
| XM_011522481.3:c.2501T>C | XP_011520783.1:p.Leu834Pro | |
| XM_017023212.1:c.2675T>C | XP_016878701.1:p.Leu892Pro | |
| XM_017023214.1:c.2843T>C | XP_016878703.1:p.Leu948Pro | |
| XM_024450261.1:c.2879T>C | XP_024306029.1:p.Leu960Pro | |
| XR_932836.2:n.3024T>C | ||
| XR_932837.3:n.3024T>C | ||
| XR_932838.3:n.3024T>C | ||
| NM_001171.6:c.2843T>C MANE Select | NP_001162.5:p.Leu948Pro |