Linked Data
ClinVar Variation Id:
216763
dbSNP Id:
rs863224792
gnomAD v2:
16-23646882-G-C
gnomAD v3:
16-23635561-G-C
gnomAD v4:
16-23635561-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635561G>C , CM000678.2:g.23635561G>C | GRCh38 |
| NC_000016.9:g.23646882G>C , CM000678.1:g.23646882G>C | GRCh37 |
| NC_000016.8:g.23554383G>C | NCBI36 |
| NG_007406.1:g.10797C>G , LRG_308:g.10797C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.991C>G | ENSP00000460666.3:p.Leu331Val | |
| ENST00000565038.2:c.211+2289C>G | ENSP00000459882.2:n.211+2289C>G | |
| ENST00000566069.6:c.985C>G | ENSP00000459237.2:p.Leu329Val | |
| ENST00000697377.2:c.991C>G | ENSP00000513286.2:p.Leu331Val | |
| ENST00000697379.2:c.991C>G | ENSP00000513287.2:p.Leu331Val | |
| ENST00000561514.2:c.100C>G | ENSP00000460666.2:p.Leu34Val | |
| ENST00000697374.1:c.100C>G | ENSP00000513284.1:p.Leu34Val | |
| ENST00000697375.1:n.2332C>G | ||
| ENST00000697376.1:c.100C>G | ENSP00000513285.1:p.Leu34Val | |
| ENST00000697377.1:c.100C>G | ENSP00000513286.1:p.Leu34Val | |
| ENST00000697378.1:n.1505C>G | ||
| ENST00000697379.1:c.100C>G | ENSP00000513287.1:p.Leu34Val | |
| ENST00000697382.1:c.100C>G | ENSP00000513288.1:p.Leu34Val | |
| ENST00000697383.1:c.48+5549C>G | ENSP00000513289.1:n.48+5549C>G | |
| ENST00000697384.1:n.1139C>G | ||
| ENST00000261584.9:c.985C>G MANE Select | ENSP00000261584.4:p.Leu329Val | |
| ENST00000261584.8:c.985C>G | ENSP00000261584.4:p.Leu329Val | |
| ENST00000565038.1:c.86+2289C>G | ||
| ENST00000568219.5:c.100C>G | ENSP00000454703.2:p.Leu34Val | |
| NM_024675.3:c.985C>G , LRG_308t1:c.985C>G | NP_078951.2:p.Leu329Val | |
| XM_011545946.1:c.991C>G | XP_011544248.1:p.Leu331Val | |
| XM_011545947.1:c.991C>G | XP_011544249.1:p.Leu331Val | |
| XM_011545948.1:c.100C>G | XP_011544250.1:p.Leu34Val | |
| XR_950851.1:n.1781C>G | ||
| XM_011545946.2:c.991C>G | XP_011544248.1:p.Leu331Val | |
| XM_011545947.2:c.991C>G | XP_011544249.1:p.Leu331Val | |
| XM_011545948.2:c.100C>G | XP_011544250.1:p.Leu34Val | |
| XM_017023671.1:c.991C>G | XP_016879160.1:p.Leu331Val | |
| XM_017023672.2:c.985C>G | XP_016879161.1:p.Leu329Val | |
| XM_017023673.2:c.985C>G | XP_016879162.1:p.Leu329Val | |
| NM_024675.4:c.985C>G MANE Select | NP_078951.2:p.Leu329Val |