Linked Data
ClinVar Variation Id:
2038732
ClinVar RCV Id:
RCV002895174
dbSNP Id:
rs1356126146
gnomAD v2:
19-45513057-C-T
gnomAD v4:
19-45009799-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45009799C>T , CM000681.2:g.45009799C>T | GRCh38 |
| NC_000019.9:g.45513057C>T , CM000681.1:g.45513057C>T | GRCh37 |
| NC_000019.8:g.50204897C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.155-2137C>T | ENSP00000423287.1:n.155-2137C>T | |
| ENST00000221452.13:c.155-15C>T MANE Select | ENSP00000221452.7:n.155-15C>T | |
| ENST00000221452.12:c.155-15C>T | ENSP00000221452.7:n.155-15C>T | |
| ENST00000505236.1:c.155-2137C>T | ENSP00000423287.1:n.155-2137C>T | |
| ENST00000509480.5:c.*242-15C>T | ENSP00000427348.1:n.*242-15C>T | |
| ENST00000625761.2:c.153-13C>T | ENSP00000485826.1:n.153-13C>T | |
| NM_006509.3:c.155-15C>T | NP_006500.2:n.155-15C>T | |
| XM_005259127.2:c.155-2137C>T | XP_005259184.1:n.155-2137C>T | |
| XM_005259128.2:c.155-15C>T | XP_005259185.1:n.155-15C>T | |
| XM_005259127.3:c.155-2137C>T | XP_005259184.1:n.155-2137C>T | |
| NM_006509.4:c.155-15C>T MANE Select | NP_006500.2:n.155-15C>T |