Linked Data
ClinVar Variation Id:
515578
ClinVar RCV Id:
RCV000601095
dbSNP Id:
rs947155842
gnomAD v2:
11-17568995-C-T
gnomAD v3:
11-17547448-C-T
gnomAD v4:
11-17547448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17547448C>T , CM000673.2:g.17547448C>T | GRCh38 |
| NC_000011.9:g.17568995C>T , CM000673.1:g.17568995C>T | GRCh37 |
| NC_000011.8:g.17525571C>T | NCBI36 |
| NG_011883.1:g.1969G>A | |
| NG_033191.1:g.5076C>T | |
| NG_011883.2:g.1969G>A | |
| NG_033191.2:g.5076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.76C>T | ENSP00000382323.2:p.Leu26= | |
| ENST00000399397.6:c.76C>T MANE Select | ENSP00000382329.2:p.Leu26= | |
| ENST00000399391.6:c.76C>T | ENSP00000382323.2:p.Leu26= | |
| ENST00000399397.5:c.76C>T | ENSP00000382329.2:p.Leu26= | |
| NM_001277269.1:c.76C>T | NP_001264198.1:p.Leu26= | |
| NM_001292063.1:c.76C>T | NP_001278992.1:p.Leu26= | |
| NM_001277269.2:c.76C>T | NP_001264198.1:p.Leu26= | |
| NM_001292063.2:c.76C>T MANE Select | NP_001278992.1:p.Leu26= |