Linked Data
ClinVar Variation Id:
1544391
ClinVar RCV Id:
RCV002172938
dbSNP Id:
rs2122377457
gnomAD v4:
19-45003013-A-C
MyVariant Identifiers:
chr19:g.45506271A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45003013A>C , CM000681.2:g.45003013A>C | GRCh38 |
| NC_000019.9:g.45506271A>C , CM000681.1:g.45506271A>C | GRCh37 |
| NC_000019.8:g.50198111A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.154+17A>C | ENSP00000423287.1:n.154+17A>C | |
| ENST00000221452.13:c.154+17A>C MANE Select | ENSP00000221452.7:n.154+17A>C | |
| ENST00000221452.12:c.154+17A>C | ENSP00000221452.7:n.154+17A>C | |
| ENST00000505236.1:c.154+17A>C | ENSP00000423287.1:n.154+17A>C | |
| ENST00000509480.5:c.154+17A>C | ENSP00000427348.1:n.154+17A>C | |
| ENST00000625761.2:c.152+19A>C | ENSP00000485826.1:n.152+19A>C | |
| NM_006509.3:c.154+17A>C | NP_006500.2:n.154+17A>C | |
| XM_005259127.2:c.154+17A>C | XP_005259184.1:n.154+17A>C | |
| XM_005259128.2:c.154+17A>C | XP_005259185.1:n.154+17A>C | |
| XM_005259127.3:c.154+17A>C | XP_005259184.1:n.154+17A>C | |
| NM_006509.4:c.154+17A>C MANE Select | NP_006500.2:n.154+17A>C |