Linked Data
ClinVar Variation Id:
1646611
ClinVar RCV Id:
RCV002151219
dbSNP Id:
rs758681401
gnomAD v4:
8-86671050-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671050A>G , CM000670.2:g.86671050A>G | GRCh38 |
| NC_000008.10:g.87683278A>G , CM000670.1:g.87683278A>G | GRCh37 |
| NC_000008.9:g.87752394A>G | NCBI36 |
| NG_016980.1:g.77626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.387T>C MANE Select | ENSP00000316605.5:p.Asp129= | |
| ENST00000680314.1:n.148T>C | ||
| ENST00000681746.1:c.387T>C | ENSP00000505959.1:p.Asp129= | |
| ENST00000320005.5:c.387T>C | ENSP00000316605.5:p.Asp129= | |
| NM_019098.4:c.387T>C | NP_061971.3:p.Asp129= | |
| XM_011517138.1:c.-28T>C | XP_011515440.1:n.-28T>C | |
| XM_011517138.2:c.-28T>C | XP_011515440.1:n.-28T>C | |
| NM_019098.5:c.387T>C MANE Select | NP_061971.3:p.Asp129= |