Linked Data
dbSNP Id:
rs1426838858
gnomAD v2:
11-119077256-C-A
gnomAD v3:
11-119206546-C-A
gnomAD v4:
11-119206546-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119206546C>A , CM000673.2:g.119206546C>A | GRCh38 |
| NC_000011.9:g.119077256C>A , CM000673.1:g.119077256C>A | GRCh37 |
| NC_000011.8:g.118582466C>A | NCBI36 |
| NG_016808.1:g.5267C>A , LRG_608:g.5267C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.129C>A | ENSP00000515005.1:p.Leu43= | |
| ENST00000264033.6:c.129C>A MANE Select | ENSP00000264033.3:p.Leu43= | |
| ENST00000637974.1:c.123C>A | ENSP00000490763.1:p.Leu41= | |
| ENST00000264033.5:c.129C>A | ENSP00000264033.3:p.Leu43= | |
| ENST00000634586.1:c.129C>A | ENSP00000489218.1:p.Leu43= | |
| ENST00000634840.1:c.129C>A | ENSP00000489324.1:p.Leu43= | |
| NM_005188.3:c.129C>A , LRG_608t1:c.129C>A | NP_005179.2:p.Leu43= | |
| XM_011543057.1:c.129C>A | XP_011541359.1:p.Leu43= | |
| NM_005188.4:c.129C>A MANE Select | NP_005179.2:p.Leu43= |