Linked Data
gnomAD v4:
3-172448340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448340G>T , CM000665.2:g.172448340G>T | GRCh38 |
| NC_000003.11:g.172166130G>T , CM000665.1:g.172166130G>T | GRCh37 |
| NC_000003.10:g.173648824G>T | NCBI36 |
| NG_021159.1:g.5117C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.74C>A MANE Select | ENSP00000241256.2:p.Pro25His | |
| ENST00000241256.2:c.74C>A | ENSP00000241256.2:p.Pro25His | |
| ENST00000427970.1:c.74C>A | ENSP00000395344.1:p.Pro25His | |
| NM_004122.2:c.74C>A | NP_004113.1:p.Pro25His | |
| NM_198407.2:c.74C>A MANE Select | NP_940799.1:p.Pro25His |