Linked Data
ClinVar Variation Id:
798143
dbSNP Id:
rs1307143057
gnomAD v2:
X-48547166-C-T
gnomAD v3:
X-48688777-C-T
gnomAD v4:
X-48688777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688777C>T , CM000685.2:g.48688777C>T | GRCh38 |
| NC_000023.10:g.48547166C>T , CM000685.1:g.48547166C>T | GRCh37 |
| NC_000023.9:g.48432110C>T | NCBI36 |
| NG_007877.1:g.9981C>T , LRG_125:g.9981C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.293C>T | ||
| ENST00000698625.1:c.1049C>T | ENSP00000513844.1:p.Ala350Val | |
| ENST00000698626.1:c.1049C>T | ENSP00000513845.1:p.Ala350Val | |
| ENST00000698635.1:c.1049C>T | ENSP00000513850.1:p.Ala350Val | |
| ENST00000376701.5:c.1049C>T MANE Select | ENSP00000365891.4:p.Ala350Val | |
| ENST00000376701.4:c.1049C>T | ENSP00000365891.4:p.Ala350Val | |
| ENST00000474174.1:n.293C>T | ||
| NM_000377.2:c.1049C>T , LRG_125t1:c.1049C>T | NP_000368.1:p.Ala350Val | |
| XM_011543977.1:c.932-39C>T | XP_011542279.1:n.932-39C>T | |
| XM_011543977.2:c.932-39C>T | XP_011542279.1:n.932-39C>T | |
| XM_017029786.1:c.1049C>T | XP_016885275.1:p.Ala350Val | |
| NM_000377.3:c.1049C>T MANE Select | NP_000368.1:p.Ala350Val |