Linked Data
dbSNP Id:
rs1462083049
gnomAD v2:
13-113772918-C-A
gnomAD v4:
13-113118604-C-A
COSMIC:
COSM4046165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118604C>A , CM000675.2:g.113118604C>A | GRCh38 |
| NC_000013.10:g.113772918C>A , CM000675.1:g.113772918C>A | GRCh37 |
| NC_000013.9:g.112820919C>A | NCBI36 |
| NG_009258.1:g.806C>A , LRG_548:g.806C>A | |
| NG_009262.1:g.17814C>A , LRG_554:g.17814C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.931C>A MANE Select | ENSP00000329546.4:p.Leu311Met | |
| ENST00000346342.7:c.931C>A | ENSP00000329546.3:p.Leu311Met | |
| ENST00000375581.3:c.997C>A | ENSP00000364731.3:p.Leu333Met | |
| ENST00000541084.5:c.745C>A | ENSP00000442051.2:p.Leu249Met | |
| NM_000131.4:c.997C>A , LRG_554t1:c.997C>A | NP_000122.1:p.Leu333Met | |
| NM_001267554.1:c.745C>A | NP_001254483.1:p.Leu249Met | |
| NM_019616.3:c.931C>A , LRG_554t2:c.931C>A | NP_062562.1:p.Leu311Met | |
| NR_051961.1:n.1018C>A | ||
| XM_006719963.2:c.790C>A | XP_006720026.1:p.Leu264Met | |
| XM_011537474.1:c.1039C>A | XP_011535776.1:p.Leu347Met | |
| XM_011537475.1:c.853C>A | XP_011535777.1:p.Leu285Met | |
| XM_011537476.1:c.691C>A | XP_011535778.1:p.Leu231Met | |
| XM_011537477.1:c.1000C>A | XP_011535779.1:p.Leu334Met | |
| XM_006719963.3:c.835C>A | XP_006720026.2:p.Leu279Met | |
| XM_011537474.2:c.1084C>A | XP_011535776.2:p.Leu362Met | |
| XM_011537475.2:c.898C>A | XP_011535777.2:p.Leu300Met | |
| XM_011537476.2:c.691C>A | XP_011535778.1:p.Leu231Met | |
| NM_019616.4:c.931C>A MANE Select | NP_062562.1:p.Leu311Met | |
| NR_051961.2:n.1015C>A | ||
| NM_001267554.2:c.745C>A | NP_001254483.1:p.Leu249Met |