Linked Data
gnomAD v4:
3-138945719-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945719G>T , CM000665.2:g.138945719G>T | GRCh38 |
| NC_000003.11:g.138664561G>T , CM000665.1:g.138664561G>T | GRCh37 |
| NC_000003.10:g.140147251G>T | NCBI36 |
| NG_012454.1:g.6422C>A | |
| NG_029796.1:g.3486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1004C>A MANE Select | ENSP00000497217.1:p.Pro335His | |
| ENST00000330315.3:c.1004C>A | ENSP00000333188.3:p.Pro335His | |
| NM_023067.3:c.1004C>A | NP_075555.1:p.Pro335His | |
| NM_023067.4:c.1004C>A MANE Select | NP_075555.1:p.Pro335His |