Linked Data
ClinVar Variation Id:
527940
dbSNP Id:
rs367654488
ExAC:
13:48921999 C / T
gnomAD v2:
13-48921999-C-T
gnomAD v3:
13-48347863-C-T
gnomAD v4:
13-48347863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48347863C>T , CM000675.2:g.48347863C>T | GRCh38 |
| NC_000013.10:g.48921999C>T , CM000675.1:g.48921999C>T | GRCh37 |
| NC_000013.9:g.47820000C>T | NCBI36 |
| NG_009009.1:g.49117C>T , LRG_517:g.49117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.539C>T MANE Select | ENSP00000267163.4:p.Ser180Leu | |
| ENST00000650461.1:c.539C>T | ENSP00000497193.1:p.Ser180Leu | |
| ENST00000267163.4:c.539C>T | ENSP00000267163.4:p.Ser180Leu | |
| ENST00000467505.5:c.138-12154C>T | ENSP00000434702.1:n.138-12154C>T | |
| ENST00000525036.1:n.701C>T | ||
| NM_000321.2:c.539C>T , LRG_517t1:c.539C>T | NP_000312.2:p.Ser180Leu | |
| XM_011535171.1:c.278C>T | XP_011533473.1:p.Ser93Leu | |
| XM_011535171.2:c.278C>T | XP_011533473.1:p.Ser93Leu | |
| NM_000321.3:c.539C>T MANE Select | NP_000312.2:p.Ser180Leu |