Linked Data
gnomAD v4:
12-101830834-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101830834T>G , CM000674.2:g.101830834T>G | GRCh38 |
| NC_000012.11:g.102224612T>G , CM000674.1:g.102224612T>G | GRCh37 |
| NC_000012.10:g.100748743T>G | NCBI36 |
| NG_021243.1:g.5034A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.-159A>C MANE Select | ENSP00000299314.7:n.-159A>C | |
| ENST00000299314.11:c.-159A>C | ENSP00000299314.7:n.-159A>C | |
| ENST00000392919.4:c.-159A>C | ENSP00000376651.4:n.-159A>C | |
| NM_024312.4:c.-159A>C | NP_077288.2:n.-159A>C | |
| XM_006719593.2:c.-159A>C | XP_006719656.1:n.-159A>C | |
| NM_024312.5:c.-159A>C MANE Select | NP_077288.2:n.-159A>C |