Linked Data
gnomAD v4:
2-72891712-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891712A>T , CM000664.2:g.72891712A>T | GRCh38 |
| NC_000002.11:g.73118841A>T , CM000664.1:g.73118841A>T | GRCh37 |
| NC_000002.10:g.72972349A>T | NCBI36 |
| NG_008234.1:g.9330A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*175A>T MANE Select | ENSP00000234454.5:n.*175A>T | |
| ENST00000234454.5:c.*175A>T | ENSP00000234454.5:n.*175A>T | |
| ENST00000498749.1:n.906A>T | ||
| NM_003124.4:c.*175A>T | NP_003115.1:n.*175A>T | |
| NM_003124.5:c.*175A>T MANE Select | NP_003115.1:n.*175A>T |