Linked Data
dbSNP Id:
rs779799620
ExAC:
17:71192593 C / T
gnomAD v2:
17-71192593-C-T
gnomAD v4:
17-73196454-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73196454C>T , CM000679.2:g.73196454C>T | GRCh38 |
| NC_000017.10:g.71192593C>T , CM000679.1:g.71192593C>T | GRCh37 |
| NC_000017.9:g.68704188C>T | NCBI36 |
| NG_008971.1:g.8421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299886.9:c.316-53C>T MANE Select | ENSP00000299886.4:n.316-53C>T | |
| ENST00000299886.8:c.316-53C>T | ENSP00000299886.4:n.316-53C>T | |
| ENST00000438720.7:c.314-53C>T | ||
| ENST00000582587.2:c.293-33C>T | ||
| ENST00000618996.4:c.316-53C>T | ENSP00000479450.1:n.316-53C>T | |
| NM_018714.2:c.316-53C>T | NP_061184.1:n.316-53C>T | |
| NM_018714.3:c.316-53C>T MANE Select | NP_061184.1:n.316-53C>T |