Linked Data
ClinVar Variation Id:
65620
ClinVar RCV Id:
RCV000055831
dbSNP Id:
rs397515533
gnomAD v3:
2-19946536-A-G
gnomAD v4:
2-19946536-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19946536A>G , CM000664.2:g.19946536A>G | GRCh38 |
| NC_000002.11:g.20146297A>G , CM000664.1:g.20146297A>G | GRCh37 |
| NC_000002.10:g.20009778A>G | NCBI36 |
| NG_021212.1:g.48588T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.1559T>C MANE Select | ENSP00000281405.5:p.Leu520Pro | |
| ENST00000345530.8:c.1592T>C MANE Plus Clinical | ENSP00000314444.5:p.Leu531Pro | |
| ENST00000281405.8:c.1559T>C | ENSP00000281405.4:p.Leu520Pro | |
| ENST00000345530.7:c.1592T>C | ENSP00000314444.5:p.Leu531Pro | |
| ENST00000414212.5:c.1592T>C | ENSP00000390802.1:p.Leu531Pro | |
| ENST00000445063.5:c.1035T>C | ||
| ENST00000453014.1:c.197T>C | ENSP00000404409.1:p.Leu66Pro | |
| NM_001006657.1:c.1592T>C | NP_001006658.1:p.Leu531Pro | |
| NM_020779.3:c.1559T>C | NP_065830.2:p.Leu520Pro | |
| XM_011533007.1:c.287T>C | XP_011531309.1:p.Leu96Pro | |
| XR_426989.2:n.1592T>C | ||
| XR_939699.1:n.1592T>C | ||
| XM_011533007.2:c.287T>C | XP_011531309.1:p.Leu96Pro | |
| XR_001738862.1:n.1592T>C | ||
| XR_426989.3:n.1592T>C | ||
| XR_939699.3:n.1592T>C | ||
| NM_001006657.2:c.1592T>C MANE Plus Clinical | NP_001006658.1:p.Leu531Pro | |
| NM_020779.4:c.1559T>C MANE Select | NP_065830.2:p.Leu520Pro |