Linked Data
ClinVar Variation Id:
2303421
ClinVar RCV Id:
RCV002878913
dbSNP Id:
rs1791582914
gnomAD v3:
7-93103945-A-G
gnomAD v4:
7-93103945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93103945A>G , CM000669.2:g.93103945A>G | GRCh38 |
| NC_000007.13:g.92733258A>G , CM000669.1:g.92733258A>G | GRCh37 |
| NC_000007.12:g.92571194A>G | NCBI36 |
| NG_023419.1:g.19079T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2153T>C MANE Select | ENSP00000369292.2:p.Ile718Thr | |
| ENST00000379958.2:c.2153T>C | ENSP00000369292.2:p.Ile718Thr | |
| ENST00000446617.1:c.2153T>C | ENSP00000414529.1:p.Ile718Thr | |
| ENST00000620985.4:c.2153T>C | ENSP00000484636.1:p.Ile718Thr | |
| NM_001193307.1:c.2153T>C | NP_001180236.1:p.Ile718Thr | |
| NM_017654.3:c.2153T>C | NP_060124.2:p.Ile718Thr | |
| NM_017654.4:c.2153T>C MANE Select | NP_060124.2:p.Ile718Thr | |
| NM_001193307.2:c.2153T>C | NP_001180236.1:p.Ile718Thr |