Linked Data
ClinVar Variation Id:
333631
ClinVar RCV Id:
RCV000325655
dbSNP Id:
rs550462760
gnomAD v2:
2-203241623-A-T
gnomAD v3:
2-202376900-A-T
gnomAD v4:
2-202376900-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202376900A>T , CM000664.2:g.202376900A>T | GRCh38 |
| NC_000002.11:g.203241623A>T , CM000664.1:g.203241623A>T | GRCh37 |
| NC_000002.10:g.202949868A>T | NCBI36 |
| NG_009363.1:g.5574A>T , LRG_712:g.5574A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.-575A>T MANE Select | ENSP00000363708.4:n.-575A>T | |
| NM_001204.6:c.-575A>T , LRG_712t1:c.-575A>T | NP_001195.2:n.-575A>T | |
| XM_011511687.1:c.-575A>T | XP_011509989.1:n.-575A>T | |
| XM_011511688.1:c.-575A>T | XP_011509990.1:n.-575A>T | |
| NM_001204.7:c.-575A>T MANE Select | NP_001195.2:n.-575A>T |