Linked Data
dbSNP Id:
rs1319449204
gnomAD v2:
19-44274051-C-T
gnomAD v3:
19-43769899-C-T
gnomAD v4:
19-43769899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43769899C>T , CM000681.2:g.43769899C>T | GRCh38 |
| NC_000019.9:g.44274051C>T , CM000681.1:g.44274051C>T | GRCh37 |
| NC_000019.8:g.48965891C>T | NCBI36 |
| NG_052672.1:g.17241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601549.2:n.442-70G>A | ||
| ENST00000648053.1:n.252-70G>A | ||
| ENST00000648319.1:c.820-70G>A MANE Select | ENSP00000496939.1:n.820-70G>A | |
| ENST00000262888.7:c.820-70G>A | ENSP00000262888.3:n.820-70G>A | |
| ENST00000599720.5:c.*90-70G>A | ENSP00000472513.1:n.*90-70G>A | |
| ENST00000600408.1:c.109-70G>A | ENSP00000472510.1:n.109-70G>A | |
| ENST00000601549.1:n.129-70G>A | ||
| ENST00000615047.4:c.424-70G>A | ENSP00000485014.1:n.424-70G>A | |
| NM_002250.2:c.820-70G>A | NP_002241.1:n.820-70G>A | |
| XM_005258882.2:c.724-70G>A | XP_005258939.1:n.724-70G>A | |
| XM_005258883.2:c.631-70G>A | XP_005258940.1:n.631-70G>A | |
| XR_935823.1:n.2066-70G>A | ||
| XR_002958313.1:n.2212-70G>A | ||
| NM_002250.3:c.820-70G>A MANE Select | NP_002241.1:n.820-70G>A |