Linked Data
ClinVar Variation Id:
2976267
ClinVar RCV Id:
RCV003836417
dbSNP Id:
rs571347276
gnomAD v2:
19-49079264-C-T
gnomAD v3:
19-48576007-C-T
gnomAD v4:
19-48576007-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48576007C>T , CM000681.2:g.48576007C>T | GRCh38 |
| NC_000019.9:g.49079264C>T , CM000681.1:g.49079264C>T | GRCh37 |
| NC_000019.8:g.53771076C>T | NCBI36 |
| NG_029063.1:g.28836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201586.7:c.138C>T MANE Select | ENSP00000201586.2:p.Leu46= | |
| ENST00000201586.6:c.138C>T | ENSP00000201586.1:p.Leu46= | |
| ENST00000323090.4:c.93C>T | ENSP00000312880.3:p.Leu31= | |
| NM_004605.2:c.93C>T | NP_004596.2:p.Leu31= | |
| NM_177973.1:c.138C>T | NP_814444.1:p.Leu46= | |
| NM_177973.2:c.138C>T MANE Select | NP_814444.1:p.Leu46= |