Linked Data
gnomAD v4:
2-29062309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29062309T>C , CM000664.2:g.29062309T>C | GRCh38 |
| NC_000002.11:g.29285175T>C , CM000664.1:g.29285175T>C | GRCh37 |
| NC_000002.10:g.29138679T>C | NCBI36 |
| NG_021427.1:g.16953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.*2560A>G MANE Select | ENSP00000332809.4:n.*2560A>G | |
| ENST00000331664.5:c.6427A>G | ENSP00000332809.4:n.6427A>G | |
| NM_001029883.2:c.6427A>G | NP_001025054.1:n.6427A>G | |
| XM_011532826.1:c.*382-654A>G | XP_011531128.1:n.*382-654A>G | |
| NM_001029883.3:c.*2560A>G MANE Select | NP_001025054.1:n.*2560A>G |