Linked Data
ClinVar Variation Id:
1079984
dbSNP Id:
rs767430981
ExAC:
6:42932162 G / A
gnomAD v2:
6-42932162-G-A
gnomAD v3:
6-42964424-G-A
gnomAD v4:
6-42964424-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42964424G>A , CM000668.2:g.42964424G>A | GRCh38 |
| NC_000006.11:g.42932162G>A , CM000668.1:g.42932162G>A | GRCh37 |
| NC_000006.10:g.43040140G>A | NCBI36 |
| NG_008370.1:g.19820C>T | |
| NG_008396.1:g.8663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.2854C>T MANE Select | ENSP00000303511.8:p.Leu952= | |
| ENST00000244546.4:c.2607C>T | ENSP00000244546.4:n.2607C>T | |
| ENST00000304611.12:c.2854C>T | ENSP00000303511.8:p.Leu952= | |
| NM_000287.3:c.2854C>T | NP_000278.3:p.Leu952= | |
| NM_001316313.1:c.2590C>T | NP_001303242.1:p.Leu864= | |
| NR_133009.1:n.2700C>T | ||
| XM_011514661.1:c.2770C>T | XP_011512963.1:p.Leu924= | |
| XM_011514661.2:c.2770C>T | XP_011512963.1:p.Leu924= | |
| XR_001743466.2:n.3816C>T | ||
| NM_000287.4:c.2854C>T MANE Select | NP_000278.3:p.Leu952= | |
| NM_001316313.2:c.2590C>T | NP_001303242.1:p.Leu864= | |
| NR_133009.2:n.2638C>T |