Linked Data
dbSNP Id:
rs1056289563
gnomAD v2:
11-64518984-C-T
gnomAD v3:
11-64751512-C-T
gnomAD v4:
11-64751512-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64751512C>T , CM000673.2:g.64751512C>T | GRCh38 |
| NC_000011.9:g.64518984C>T , CM000673.1:g.64518984C>T | GRCh37 |
| NC_000011.8:g.64275560C>T | NCBI36 |
| NG_013018.1:g.14204G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1828-46G>A MANE Select | ENSP00000164139.3:n.1828-46G>A | |
| ENST00000164139.3:c.1828-46G>A | ENSP00000164139.3:n.1828-46G>A | |
| ENST00000377432.7:c.1564-46G>A | ENSP00000366650.3:n.1564-46G>A | |
| ENST00000462303.1:n.152-46G>A | ||
| NM_001164716.1:c.1564-46G>A | NP_001158188.1:n.1564-46G>A | |
| NM_005609.2:c.1828-46G>A | NP_005600.1:n.1828-46G>A | |
| NM_005609.3:c.1828-46G>A | NP_005600.1:n.1828-46G>A | |
| NM_005609.4:c.1828-46G>A MANE Select | NP_005600.1:n.1828-46G>A |