Linked Data
dbSNP Id:
rs1917803258
gnomAD v3:
19-6679477-G-A
gnomAD v4:
19-6679477-G-A
MyVariant Identifiers:
chr19:g.6679488G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6679477G>A , CM000681.2:g.6679477G>A | GRCh38 |
| NC_000019.9:g.6679488G>A , CM000681.1:g.6679488G>A | GRCh37 |
| NC_000019.8:g.6630488G>A | NCBI36 |
| NG_009557.1:g.46175C>T , LRG_27:g.46175C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2824C>T | ||
| ENST00000695653.1:c.2385C>T | ENSP00000512084.1:p.Phe795= | |
| ENST00000695654.1:c.3501C>T | ENSP00000512085.1:p.Phe1167= | |
| ENST00000695689.1:c.447C>T | ENSP00000512101.1:n.447C>T | |
| ENST00000695690.1:n.1541C>T | ||
| ENST00000695691.1:n.1337C>T | ||
| ENST00000245907.11:c.4476C>T MANE Select | ENSP00000245907.4:p.Phe1492= | |
| ENST00000245907.10:c.4476C>T | ENSP00000245907.4:p.Phe1492= | |
| ENST00000599668.1:n.71C>T | ||
| ENST00000599899.5:n.1435C>T | ||
| ENST00000601008.1:c.242-1519C>T | ENSP00000471384.1:n.242-1519C>T | |
| NM_000064.3:c.4476C>T | NP_000055.2:p.Phe1492= | |
| NM_000064.4:c.4476C>T MANE Select | NP_000055.2:p.Phe1492= |