Linked Data
ClinVar Variation Id:
322411
dbSNP Id:
rs371270310
ExAC:
17:26732421 G / T
gnomAD v2:
17-26732421-G-T
gnomAD v3:
17-28405403-G-T
gnomAD v4:
17-28405403-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405403G>T , CM000679.2:g.28405403G>T | GRCh38 |
| NC_000017.10:g.26732421G>T , CM000679.1:g.26732421G>T | GRCh37 |
| NC_000017.9:g.23756548G>T | NCBI36 |
| NG_013306.1:g.5808C>A , LRG_183:g.5808C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.294C>A MANE Select | ENSP00000480703.1:p.Leu98= | |
| ENST00000578217.1:n.67+278C>A | ||
| ENST00000581516.1:c.72C>A | ENSP00000462942.1:p.Leu24= | |
| ENST00000582590.1:n.348C>A | ||
| ENST00000584426.1:c.30C>A | ENSP00000467416.1:p.Leu10= | |
| ENST00000584995.5:c.72C>A | ENSP00000464190.1:p.Leu24= | |
| ENST00000612814.4:c.294C>A | ENSP00000480703.1:p.Leu98= | |
| ENST00000618626.1:c.294C>A | ENSP00000483652.1:p.Leu98= | |
| NM_001242366.2:c.294C>A | NP_001229295.1:p.Leu98= | |
| NM_080669.5:c.294C>A | NP_542400.2:p.Leu98= | |
| XM_005277786.2:c.294C>A | XP_005277843.1:p.Leu98= | |
| XR_934643.1:n.41G>T | ||
| XM_005277786.3:c.294C>A | XP_005277843.1:p.Leu98= | |
| XM_017024110.1:c.72C>A | XP_016879599.1:p.Leu24= | |
| NM_080669.6:c.294C>A MANE Select | NP_542400.2:p.Leu98= | |
| NM_001242366.3:c.294C>A | NP_001229295.1:p.Leu98= |