Linked Data
dbSNP Id:
rs758230051
ExAC:
19:6686129 A / C
gnomAD v2:
19-6686129-A-C
gnomAD v4:
19-6686118-A-C
MyVariant Identifiers:
chr19:g.6686129A>C (hg19)
chr19:g.6686129_6686132delinsCCTT (hg19)
chr19:g.6686118A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6686118A>C , CM000681.2:g.6686118A>C | GRCh38 |
| NC_000019.9:g.6686129A>C , CM000681.1:g.6686129A>C | GRCh37 |
| NC_000019.8:g.6637129A>C | NCBI36 |
| NG_009557.1:g.39534T>G , LRG_27:g.39534T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2158+6T>G | ||
| ENST00000695653.1:c.1719+6T>G | ENSP00000512084.1:n.1719+6T>G | |
| ENST00000695654.1:c.2835+6T>G | ENSP00000512085.1:n.2835+6T>G | |
| ENST00000695692.1:n.3180T>G | ||
| ENST00000245907.11:c.3810+6T>G MANE Select | ENSP00000245907.4:n.3810+6T>G | |
| ENST00000245907.10:c.3810+6T>G | ENSP00000245907.4:n.3810+6T>G | |
| ENST00000596238.1:n.253+6T>G | ||
| ENST00000601008.1:c.241+628T>G | ENSP00000471384.1:n.241+628T>G | |
| NM_000064.3:c.3810+6T>G | NP_000055.2:n.3810+6T>G | |
| NM_000064.4:c.3810+6T>G MANE Select | NP_000055.2:n.3810+6T>G |