Linked Data
gnomAD v4:
1-192811971-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192811971A>T , CM000663.2:g.192811971A>T | GRCh38 |
| NC_000001.10:g.192781101A>T , CM000663.1:g.192781101A>T | GRCh37 |
| NC_000001.9:g.191047724A>T | NCBI36 |
| NG_012800.1:g.7933A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*375A>T MANE Select | ENSP00000235382.5:n.*375A>T | |
| ENST00000235382.6:c.*375A>T | ENSP00000235382.5:n.*375A>T | |
| NM_002923.3:c.*375A>T | NP_002914.1:n.*375A>T | |
| NM_002923.4:c.*375A>T MANE Select | NP_002914.1:n.*375A>T |