Linked Data
dbSNP Id:
rs1329382617
gnomAD v2:
4-24801826-G-T
gnomAD v3:
4-24800204-G-T
gnomAD v4:
4-24800204-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800204G>T , CM000666.2:g.24800204G>T | GRCh38 |
| NC_000004.11:g.24801826G>T , CM000666.1:g.24801826G>T | GRCh37 |
| NC_000004.10:g.24410924G>T | NCBI36 |
| NG_012213.1:g.9742G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.683G>T MANE Select | ENSP00000371554.3:p.Arg228Leu | |
| ENST00000382120.3:c.683G>T | ENSP00000371554.3:p.Arg228Leu | |
| NM_003102.2:c.683G>T | NP_003093.2:p.Arg228Leu | |
| XR_427488.1:n.873G>T | ||
| NM_003102.3:c.683G>T | NP_003093.2:p.Arg228Leu | |
| NM_003102.4:c.683G>T MANE Select | NP_003093.2:p.Arg228Leu |