Linked Data
gnomAD v4:
4-42962923-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962923T>C , CM000666.2:g.42962923T>C | GRCh38 |
| NC_000004.11:g.42964940T>C , CM000666.1:g.42964940T>C | GRCh37 |
| NC_000004.10:g.42659697T>C | NCBI36 |
| NG_027718.1:g.74658T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.416T>C MANE Select | ENSP00000382670.2:p.Val139Ala | |
| ENST00000399770.2:c.416T>C | ENSP00000382670.2:p.Val139Ala | |
| NM_001080476.2:c.416T>C | NP_001073945.1:p.Val139Ala | |
| XM_011513691.1:c.53T>C | XP_011511993.1:p.Val18Ala | |
| NM_001080476.3:c.416T>C MANE Select | NP_001073945.1:p.Val139Ala |