Linked Data
ClinVar Variation Id:
1158956
ClinVar RCV Id:
RCV001502548
dbSNP Id:
rs773000413
ExAC:
5:149357525 C / T
gnomAD v2:
5-149357525-C-T
gnomAD v4:
5-149977962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977962C>T , CM000667.2:g.149977962C>T | GRCh38 |
| NC_000005.9:g.149357525C>T , CM000667.1:g.149357525C>T | GRCh37 |
| NC_000005.8:g.149337718C>T | NCBI36 |
| NG_007147.2:g.19080C>T , LRG_684:g.19080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.542C>T | ||
| ENST00000286298.5:c.310C>T MANE Select | ENSP00000286298.4:p.Leu104= | |
| ENST00000286298.4:c.310C>T | ENSP00000286298.4:p.Leu104= | |
| NM_000112.3:c.310C>T , LRG_684t1:c.310C>T | NP_000103.2:p.Leu104= | |
| XM_017009191.2:c.310C>T | XP_016864680.1:p.Leu104= | |
| NM_000112.4:c.310C>T MANE Select | NP_000103.2:p.Leu104= |