Linked Data
ClinVar Variation Id:
472942
ClinVar RCV Id:
RCV000527229
dbSNP Id:
rs772904982
gnomAD v2:
7-2579486-G-C
gnomAD v4:
7-2539852-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2539852G>C , CM000669.2:g.2539852G>C | GRCh38 |
| NC_000007.13:g.2579486G>C , CM000669.1:g.2579486G>C | GRCh37 |
| NC_000007.12:g.2546012G>C | NCBI36 |
| NG_032167.1:g.20907C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340611.9:c.1432C>G MANE Select | ENSP00000339637.4:p.Leu478Val | |
| ENST00000340611.8:c.1432C>G | ENSP00000339637.4:p.Leu478Val | |
| ENST00000467558.5:n.2804C>G | ||
| ENST00000469750.5:n.4004C>G | ||
| ENST00000473879.1:n.148C>G | ||
| ENST00000493232.5:n.4168C>G | ||
| NM_152743.3:c.1432C>G | NP_689956.2:p.Leu478Val | |
| XM_005249643.3:c.1432C>G | XP_005249700.1:p.Leu478Val | |
| XM_011515177.1:c.1516C>G | XP_011513479.1:p.Leu506Val | |
| XM_011515178.1:c.1516C>G | XP_011513480.1:p.Leu506Val | |
| XM_011515179.1:c.1513C>G | XP_011513481.1:p.Leu505Val | |
| XM_011515180.1:c.1486C>G | XP_011513482.1:p.Leu496Val | |
| XM_011515181.1:c.1516C>G | XP_011513483.1:p.Leu506Val | |
| XM_011515182.1:c.1516C>G | XP_011513484.1:p.Leu506Val | |
| XM_011515183.1:c.991C>G | XP_011513485.1:p.Leu331Val | |
| XM_011515184.1:c.991C>G | XP_011513486.1:p.Leu331Val | |
| XM_011515185.1:c.1432C>G | XP_011513487.1:p.Leu478Val | |
| XM_011515186.1:c.1516C>G | XP_011513488.1:p.Leu506Val | |
| XM_011515187.1:c.88C>G | XP_011513489.1:p.Leu30Val | |
| NM_001350626.1:c.1432C>G | NP_001337555.1:p.Leu478Val | |
| NM_001350627.1:c.907C>G | NP_001337556.1:p.Leu303Val | |
| NR_146879.1:n.1849C>G | ||
| XM_011515177.2:c.1516C>G | XP_011513479.1:p.Leu506Val | |
| XM_011515179.2:c.1513C>G | XP_011513481.1:p.Leu505Val | |
| XM_011515181.2:c.1516C>G | XP_011513483.1:p.Leu506Val | |
| XM_011515182.2:c.1516C>G | XP_011513484.1:p.Leu506Val | |
| XM_011515184.3:c.991C>G | XP_011513486.1:p.Leu331Val | |
| XM_011515186.2:c.1516C>G | XP_011513488.1:p.Leu506Val | |
| XM_017011833.1:c.1429C>G | XP_016867322.1:p.Leu477Val | |
| XM_017011834.1:c.1429C>G | XP_016867323.1:p.Leu477Val | |
| XM_017011836.2:c.1432C>G | XP_016867325.1:p.Leu478Val | |
| XM_024446682.1:c.88C>G | XP_024302450.1:p.Leu30Val | |
| NM_152743.4:c.1432C>G MANE Select | NP_689956.2:p.Leu478Val | |
| NM_001350626.2:c.1432C>G | NP_001337555.1:p.Leu478Val | |
| NM_001350627.2:c.907C>G | NP_001337556.1:p.Leu303Val | |
| NR_146879.2:n.1615C>G |