Linked Data
ClinVar Variation Id:
1715236
ClinVar RCV Id:
RCV002301078
dbSNP Id:
rs1422087971
gnomAD v2:
X-15342912-A-T
gnomAD v4:
X-15324790-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15324790A>T , CM000685.2:g.15324790A>T | GRCh38 |
| NC_000023.10:g.15342912A>T , CM000685.1:g.15342912A>T | GRCh37 |
| NC_000023.9:g.15252833A>T | NCBI36 |
| NG_009786.1:g.15749T>A , LRG_160:g.15749T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1063T>A MANE Select | ENSP00000369820.3:p.Leu355Met | |
| ENST00000637296.1:c.118T>A | ENSP00000490545.1:p.Leu40Met | |
| ENST00000637626.1:c.*544T>A | ENSP00000489928.1:n.*544T>A | |
| ENST00000638131.1:c.*324T>A | ENSP00000490483.1:n.*324T>A | |
| ENST00000333590.5:c.1063T>A | ENSP00000369820.3:p.Leu355Met | |
| ENST00000463173.1:n.335T>A | ||
| ENST00000475746.1:c.81+230T>A | ENSP00000488970.1:n.81+230T>A | |
| ENST00000482148.6:c.556T>A | ENSP00000489528.1:p.Leu186Met | |
| ENST00000542278.6:c.1063T>A | ENSP00000442653.2:p.Leu355Met | |
| ENST00000634286.1:c.676T>A | ENSP00000489491.1:n.676T>A | |
| ENST00000634582.1:c.361T>A | ENSP00000489540.1:p.Leu121Met | |
| ENST00000634640.1:c.118T>A | ENSP00000489083.1:p.Leu40Met | |
| ENST00000635045.1:n.1296T>A | ||
| ENST00000635480.1:n.685T>A | ||
| ENST00000635598.1:c.*332T>A | ENSP00000489207.1:n.*332T>A | |
| ENST00000635631.1:n.404T>A | ||
| NM_002641.3:c.1063T>A , LRG_160t1:c.1063T>A | NP_002632.1:p.Leu355Met | |
| NM_020473.3:c.361T>A | NP_065206.3:p.Leu121Met | |
| NR_033835.1:n.805T>A | ||
| NR_033836.1:n.521T>A | ||
| XM_011545539.1:c.370T>A | XP_011543841.1:p.Leu124Met | |
| XM_011545539.2:c.370T>A | XP_011543841.1:p.Leu124Met | |
| NM_002641.4:c.1063T>A MANE Select | NP_002632.1:p.Leu355Met |