Linked Data
ClinVar Variation Id:
1644942
ClinVar RCV Id:
RCV002143568
dbSNP Id:
rs139395970
ExAC:
19:45506270 C / T
gnomAD v2:
19-45506270-C-T
gnomAD v3:
19-45003012-C-T
gnomAD v4:
19-45003012-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45003012C>T , CM000681.2:g.45003012C>T | GRCh38 |
| NC_000019.9:g.45506270C>T , CM000681.1:g.45506270C>T | GRCh37 |
| NC_000019.8:g.50198110C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.154+16C>T | ENSP00000423287.1:n.154+16C>T | |
| ENST00000221452.13:c.154+16C>T MANE Select | ENSP00000221452.7:n.154+16C>T | |
| ENST00000221452.12:c.154+16C>T | ENSP00000221452.7:n.154+16C>T | |
| ENST00000505236.1:c.154+16C>T | ENSP00000423287.1:n.154+16C>T | |
| ENST00000509480.5:c.154+16C>T | ENSP00000427348.1:n.154+16C>T | |
| ENST00000625761.2:c.152+18C>T | ENSP00000485826.1:n.152+18C>T | |
| NM_006509.3:c.154+16C>T | NP_006500.2:n.154+16C>T | |
| XM_005259127.2:c.154+16C>T | XP_005259184.1:n.154+16C>T | |
| XM_005259128.2:c.154+16C>T | XP_005259185.1:n.154+16C>T | |
| XM_005259127.3:c.154+16C>T | XP_005259184.1:n.154+16C>T | |
| NM_006509.4:c.154+16C>T MANE Select | NP_006500.2:n.154+16C>T |