Linked Data
gnomAD v4:
14-20454805-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454805A>G , CM000676.2:g.20454805A>G | GRCh38 |
| NC_000014.8:g.20922964A>G , CM000676.1:g.20922964A>G | GRCh37 |
| NC_000014.7:g.19992804A>G | NCBI36 |
| NG_008718.1:g.4675A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.-122T>C MANE Select | ENSP00000206542.4:n.-122T>C | |
| ENST00000206542.8:c.-122T>C | ENSP00000206542.4:n.-122T>C | |
| ENST00000553640.3:c.-122T>C | ENSP00000451580.1:n.-122T>C | |
| ENST00000556252.1:n.249T>C | ||
| ENST00000556439.1:n.285T>C | ||
| NM_017807.3:c.-122T>C | NP_060277.1:n.-122T>C | |
| XM_011536930.1:c.-183T>C | XP_011535232.1:n.-183T>C | |
| XM_011536931.1:c.-418T>C | XP_011535233.1:n.-418T>C | |
| XM_011536932.1:c.-422T>C | XP_011535234.1:n.-422T>C | |
| NM_017807.4:c.-122T>C MANE Select | NP_060277.1:n.-122T>C |