Linked Data
ClinVar Variation Id:
1225506
ClinVar RCV Id:
RCV001611072
dbSNP Id:
rs40184
gnomAD v2:
5-1395077-C-T
gnomAD v3:
5-1394962-C-T
gnomAD v4:
5-1394962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394962C>T , CM000667.2:g.1394962C>T | GRCh38 |
| NC_000005.9:g.1395077C>T , CM000667.1:g.1395077C>T | GRCh37 |
| NC_000005.8:g.1448077C>T | NCBI36 |
| NG_015885.1:g.55467G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1840-204G>A MANE Select | ENSP00000270349.9:n.1840-204G>A | |
| ENST00000270349.11:c.1840-204G>A | ENSP00000270349.9:n.1840-204G>A | |
| ENST00000512002.2:n.221-204G>A | ||
| NM_001044.4:c.1840-204G>A | NP_001035.1:n.1840-204G>A | |
| NM_001044.5:c.1840-204G>A MANE Select | NP_001035.1:n.1840-204G>A |