Linked Data
ClinVar Variation Id:
519297
dbSNP Id:
rs778053688
ExAC:
1:112319658 G / C
gnomAD v2:
1-112319658-G-C
gnomAD v3:
1-111777036-G-C
gnomAD v4:
1-111777036-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111777036G>C , CM000663.2:g.111777036G>C | GRCh38 |
| NC_000001.10:g.112319658G>C , CM000663.1:g.112319658G>C | GRCh37 |
| NC_000001.9:g.112121181G>C | NCBI36 |
| NG_032011.2:g.217120C>G , LRG_445:g.217120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703640.1:n.2390C>G | ||
| ENST00000302127.5:c.1756C>G MANE Select | ENSP00000306923.4:p.Leu586Val | |
| ENST00000302127.4:c.1699C>G | ENSP00000306923.3:p.Leu567Val | |
| ENST00000315987.6:c.1756C>G | ENSP00000319591.2:p.Leu586Val | |
| ENST00000369697.5:c.1699C>G | ENSP00000358711.1:p.Leu567Val | |
| NM_004980.4:c.1756C>G , LRG_445t1:c.1756C>G | NP_004971.2:p.Leu586Val | |
| NM_172198.2:c.1699C>G | NP_751948.1:p.Leu567Val | |
| XM_005270851.3:c.1756C>G | XP_005270908.1:p.Leu586Val | |
| XM_006710629.2:c.1756C>G | XP_006710692.1:p.Leu586Val | |
| XM_006710630.2:c.1699C>G | XP_006710693.1:p.Leu567Val | |
| XM_006710631.2:c.1519-758C>G | XP_006710694.1:n.1519-758C>G | |
| XM_005270851.4:c.1756C>G | XP_005270908.1:p.Leu586Val | |
| XM_006710629.4:c.1756C>G | XP_006710692.1:p.Leu586Val | |
| XM_006710630.3:c.1699C>G | XP_006710693.1:p.Leu567Val | |
| XM_006710631.3:c.1519-758C>G | XP_006710694.1:n.1519-758C>G | |
| XM_017001244.2:c.1756C>G | XP_016856733.1:p.Leu586Val | |
| NM_001378969.1:c.1756C>G MANE Select | NP_001365898.1:p.Leu586Val | |
| NM_001378970.1:c.1699C>G | NP_001365899.1:p.Leu567Val | |
| NM_004980.5:c.1756C>G | NP_004971.2:p.Leu586Val | |
| NM_172198.3:c.1699C>G | NP_751948.1:p.Leu567Val |