Linked Data
ClinVar Variation Id:
333625
ClinVar RCV Id:
RCV000323582
dbSNP Id:
rs886055464
gnomAD v3:
2-202376638-G-T
gnomAD v4:
2-202376638-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376638G>T , CM000664.2:g.202376638G>T | GRCh38 |
| NC_000002.11:g.203241361G>T , CM000664.1:g.203241361G>T | GRCh37 |
| NC_000002.10:g.202949606G>T | NCBI36 |
| NG_009363.1:g.5312G>T , LRG_712:g.5312G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.-837G>T MANE Select | ENSP00000363708.4:n.-837G>T | |
| NM_001204.6:c.-837G>T , LRG_712t1:c.-837G>T | NP_001195.2:n.-837G>T | |
| XM_011511687.1:c.-837G>T | XP_011509989.1:n.-837G>T | |
| XM_011511688.1:c.-837G>T | XP_011509990.1:n.-837G>T | |
| NM_001204.7:c.-837G>T MANE Select | NP_001195.2:n.-837G>T |