Linked Data
ClinVar Variation Id:
1798863
ClinVar RCV Id:
RCV002435834
dbSNP Id:
rs1447096272
gnomAD v2:
16-23632780-A-T
gnomAD v3:
16-23621459-A-T
gnomAD v4:
16-23621459-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23621459A>T , CM000678.2:g.23621459A>T | GRCh38 |
| NC_000016.9:g.23632780A>T , CM000678.1:g.23632780A>T | GRCh37 |
| NC_000016.8:g.23540281A>T | NCBI36 |
| NG_007406.1:g.24899T>A , LRG_308:g.24899T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3022T>A | ENSP00000460666.3:p.Leu1008Met | |
| ENST00000565038.2:c.*497T>A | ENSP00000459882.2:n.*497T>A | |
| ENST00000566069.6:c.3016T>A | ENSP00000459237.2:p.Leu1006Met | |
| ENST00000697377.2:c.2860T>A | ENSP00000513286.2:p.Leu954Met | |
| ENST00000697379.2:c.3022T>A | ENSP00000513287.2:p.Leu1008Met | |
| ENST00000561514.2:c.2131T>A | ENSP00000460666.2:p.Leu711Met | |
| ENST00000697374.1:c.2131T>A | ENSP00000513284.1:p.Leu711Met | |
| ENST00000697375.1:n.4363T>A | ||
| ENST00000697376.1:c.2131T>A | ENSP00000513285.1:p.Leu711Met | |
| ENST00000697377.1:c.1969T>A | ENSP00000513286.1:p.Leu657Met | |
| ENST00000697378.1:n.3536T>A | ||
| ENST00000697379.1:c.2131T>A | ENSP00000513287.1:p.Leu711Met | |
| ENST00000697380.1:n.2308T>A | ||
| ENST00000697381.1:n.1711T>A | ||
| ENST00000697382.1:c.2131T>A | ENSP00000513288.1:p.Leu711Met | |
| ENST00000697383.1:c.550T>A | ENSP00000513289.1:p.Leu184Met | |
| ENST00000261584.9:c.3016T>A MANE Select | ENSP00000261584.4:p.Leu1006Met | |
| ENST00000261584.8:c.3016T>A | ENSP00000261584.4:p.Leu1006Met | |
| ENST00000568219.5:c.2131T>A | ENSP00000454703.2:p.Leu711Met | |
| NM_024675.3:c.3016T>A , LRG_308t1:c.3016T>A | NP_078951.2:p.Leu1006Met | |
| XM_011545946.1:c.3022T>A | XP_011544248.1:p.Leu1008Met | |
| XM_011545947.1:c.3022T>A | XP_011544249.1:p.Leu1008Met | |
| XM_011545948.1:c.2131T>A | XP_011544250.1:p.Leu711Met | |
| XR_950851.1:n.3812T>A | ||
| XM_011545946.2:c.3022T>A | XP_011544248.1:p.Leu1008Met | |
| XM_011545947.2:c.3022T>A | XP_011544249.1:p.Leu1008Met | |
| XM_011545948.2:c.2131T>A | XP_011544250.1:p.Leu711Met | |
| XM_017023671.1:c.3022T>A | XP_016879160.1:p.Leu1008Met | |
| XM_017023672.2:c.3016T>A | XP_016879161.1:p.Leu1006Met | |
| XM_017023673.2:c.3016T>A | XP_016879162.1:p.Leu1006Met | |
| NM_024675.4:c.3016T>A MANE Select | NP_078951.2:p.Leu1006Met |