Linked Data
ClinVar Variation Id:
120292
ClinVar RCV Id:
RCV000106373
dbSNP Id:
rs281865449
ERepo:
CA267684/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851685A>G , CM000674.2:g.102851685A>G | GRCh38 |
| NC_000012.11:g.103245463A>G , CM000674.1:g.103245463A>G | GRCh37 |
| NC_000012.10:g.101769593A>G | NCBI36 |
| NG_008690.1:g.70918T>C | |
| NG_008690.2:g.111726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.912+2T>C MANE Select | ENSP00000448059.1:n.912+2T>C | |
| ENST00000307000.7:c.897+2T>C | ENSP00000303500.2:n.897+2T>C | |
| ENST00000549247.6:n.671+2T>C | ||
| ENST00000551114.2:n.574+2T>C | ||
| ENST00000553106.5:c.912+2T>C | ENSP00000448059.1:n.912+2T>C | |
| ENST00000635477.1:c.73+2T>C | ||
| NM_000277.1:c.912+2T>C | NP_000268.1:n.912+2T>C | |
| XM_011538422.1:c.912+2T>C | XP_011536724.1:n.912+2T>C | |
| NM_000277.2:c.912+2T>C | NP_000268.1:n.912+2T>C | |
| NM_001354304.1:c.912+2T>C | NP_001341233.1:n.912+2T>C | |
| NM_000277.3:c.912+2T>C MANE Select | NP_000268.1:n.912+2T>C | |
| NM_001354304.2:c.912+2T>C | NP_001341233.1:n.912+2T>C |