Linked Data
dbSNP Id:
rs745792330
ExAC:
14:75475709 T / G
gnomAD v2:
14-75475709-T-G
gnomAD v4:
14-75009006-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009006T>G , CM000676.2:g.75009006T>G | GRCh38 |
| NC_000014.8:g.75475709T>G , CM000676.1:g.75475709T>G | GRCh37 |
| NC_000014.7:g.74545462T>G | NCBI36 |
| NG_013333.1:g.11098T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.899-25T>G MANE Select | ENSP00000266126.5:n.899-25T>G | |
| ENST00000266126.9:c.899-25T>G | ENSP00000266126.5:n.899-25T>G | |
| ENST00000556668.1:n.479-25T>G | ||
| NM_014239.3:c.899-25T>G | NP_055054.1:n.899-25T>G | |
| NM_014239.4:c.899-25T>G MANE Select | NP_055054.1:n.899-25T>G |