Linked Data
ClinVar Variation Id:
500075
dbSNP Id:
rs147567606
ExAC:
6:42936185 G / A
gnomAD v2:
6-42936185-G-A
gnomAD v3:
6-42968447-G-A
gnomAD v4:
6-42968447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42968447G>A , CM000668.2:g.42968447G>A | GRCh38 |
| NC_000006.11:g.42936185G>A , CM000668.1:g.42936185G>A | GRCh37 |
| NC_000006.10:g.43044163G>A | NCBI36 |
| NG_008370.1:g.15797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1531C>T MANE Select | ENSP00000303511.8:p.Leu511= | |
| ENST00000244546.4:c.1531C>T | ENSP00000244546.4:p.Leu511= | |
| ENST00000304611.12:c.1531C>T | ENSP00000303511.8:p.Leu511= | |
| NM_000287.3:c.1531C>T | NP_000278.3:p.Leu511= | |
| NM_001316313.1:c.1267C>T | NP_001303242.1:p.Leu423= | |
| NR_133009.1:n.1624C>T | ||
| XM_011514661.1:c.1447C>T | XP_011512963.1:p.Leu483= | |
| XR_926246.1:n.1512C>T | ||
| XM_011514661.2:c.1447C>T | XP_011512963.1:p.Leu483= | |
| XR_001743466.2:n.2493C>T | ||
| NM_000287.4:c.1531C>T MANE Select | NP_000278.3:p.Leu511= | |
| NM_001316313.2:c.1267C>T | NP_001303242.1:p.Leu423= | |
| NR_133009.2:n.1562C>T |