Linked Data
ClinVar Variation Id:
200254
dbSNP Id:
rs794728346
gnomAD v2:
7-150644489-G-T
gnomAD v3:
7-150947401-G-T
gnomAD v4:
7-150947401-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947401G>T , CM000669.2:g.150947401G>T | GRCh38 |
| NC_000007.13:g.150644489G>T , CM000669.1:g.150644489G>T | GRCh37 |
| NC_000007.12:g.150275422G>T | NCBI36 |
| NG_008916.1:g.35526C>A , LRG_288:g.35526C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3912C>A | ||
| ENST00000262186.10:c.3079C>A MANE Select | ENSP00000262186.5:p.Leu1027Ile | |
| ENST00000330883.9:c.2059C>A | ENSP00000328531.4:p.Leu687Ile | |
| ENST00000262186.9:c.3079C>A | ENSP00000262186.5:p.Leu1027Ile | |
| ENST00000330883.8:c.2059C>A | ENSP00000328531.4:p.Leu687Ile | |
| NM_000238.3:c.3079C>A , LRG_288t1:c.3079C>A | NP_000229.1:p.Leu1027Ile | |
| NM_172057.2:c.2059C>A , LRG_288t3:c.2059C>A | NP_742054.1:p.Leu687Ile | |
| XM_011516185.1:c.2779C>A | XP_011514487.1:p.Leu927Ile | |
| XM_011516185.2:c.2779C>A | XP_011514487.1:p.Leu927Ile | |
| XM_017012195.1:c.2929C>A | XP_016867684.1:p.Leu977Ile | |
| XM_017012196.1:c.2902C>A | XP_016867685.1:p.Leu968Ile | |
| NM_000238.4:c.3079C>A MANE Select | NP_000229.1:p.Leu1027Ile | |
| NM_172057.3:c.2059C>A | NP_742054.1:p.Leu687Ile |