Linked Data
gnomAD v4:
2-72891701-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891701T>A , CM000664.2:g.72891701T>A | GRCh38 |
| NC_000002.11:g.73118830T>A , CM000664.1:g.73118830T>A | GRCh37 |
| NC_000002.10:g.72972338T>A | NCBI36 |
| NG_008234.1:g.9319T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*164T>A MANE Select | ENSP00000234454.5:n.*164T>A | |
| ENST00000234454.5:c.*164T>A | ENSP00000234454.5:n.*164T>A | |
| ENST00000498749.1:n.895T>A | ||
| NM_003124.4:c.*164T>A | NP_003115.1:n.*164T>A | |
| NM_003124.5:c.*164T>A MANE Select | NP_003115.1:n.*164T>A |