Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857433C>G , CM000674.2:g.121857433C>G | GRCh38 |
| NC_000012.11:g.122295339C>G , CM000674.1:g.122295339C>G | GRCh37 |
| NC_000012.10:g.120779722C>G | NCBI36 |
| NG_016461.1:g.36179G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289004.8:c.94-1G>C (HPD) MANE Select | ENSP00000289004.4:n.94-1G>C | |
| ENST00000535114.1:n.449G>C (HPD) | ||
| ENST00000542159.2:n.151G>C (HPD) | ||
| ENST00000543163.5:c.-24-1G>C (HPD) | ENSP00000441677.1:n.-24-1G>C | |
| NM_001171993.1:c.-24-1G>C (HPD) | NP_001165464.1:n.-24-1G>C | |
| NM_002150.2:c.94-1G>C (HPD) | NP_002141.1:n.94-1G>C | |
| XR_002957437.1:n.324-186C>G (TIALD) | ||
| NM_002150.3:c.94-1G>C (HPD) MANE Select | NP_002141.2:n.94-1G>C | |
| NM_001171993.2:c.-24-1G>C (HPD) | NP_001165464.1:n.-24-1G>C |