Linked Data
ClinVar Variation Id:
1685184
ClinVar RCV Id:
RCV002248911
dbSNP Id:
rs1283038205
gnomAD v4:
5-14143856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14143856C>T , CM000667.2:g.14143856C>T | GRCh38 |
| NC_000005.9:g.14143965C>T , CM000667.1:g.14143965C>T | GRCh37 |
| NC_000005.8:g.14196965C>T | NCBI36 |
| NG_052962.1:g.5155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698541.1:c.131C>T | ENSP00000513786.1:p.Ala44Val | |
| ENST00000344204.9:c.131C>T MANE Select | ENSP00000339299.4:p.Ala44Val | |
| ENST00000344204.8:c.131C>T | ENSP00000339299.4:p.Ala44Val | |
| ENST00000502816.1:n.155C>T | ||
| ENST00000505971.5:n.155C>T | ||
| ENST00000512070.6:c.-47C>T | ENSP00000421555.2:n.-47C>T | |
| NM_007118.2:c.131C>T | NP_009049.2:p.Ala44Val | |
| XM_011514113.1:c.131C>T | XP_011512415.1:p.Ala44Val | |
| XR_241714.1:n.149C>T | ||
| NM_007118.3:c.131C>T | NP_009049.2:p.Ala44Val | |
| NR_134469.1:n.155C>T | ||
| XM_017009801.1:c.131C>T | XP_016865290.1:p.Ala44Val | |
| XM_017009802.1:c.131C>T | XP_016865291.1:p.Ala44Val | |
| XR_001742236.2:n.507C>T | ||
| NM_007118.4:c.131C>T MANE Select | NP_009049.2:p.Ala44Val | |
| NR_134469.2:n.515C>T |