Linked Data
dbSNP Id:
rs10520528
gnomAD v2:
4-183260601-T-G
gnomAD v3:
4-182339448-T-G
gnomAD v4:
4-182339448-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.182339448T>G , CM000666.2:g.182339448T>G | GRCh38 |
| NC_000004.11:g.183260601T>G , CM000666.1:g.183260601T>G | GRCh37 |
| NC_000004.10:g.183497595T>G | NCBI36 |
| NG_042859.1:g.101018T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000511685.6:c.233-7203T>G MANE Select | ENSP00000424226.1:n.233-7203T>G | |
| ENST00000511685.5:c.233-7203T>G | ENSP00000424226.1:n.233-7203T>G | |
| ENST00000512480.5:c.233-7203T>G | ENSP00000421320.1:n.233-7203T>G | |
| ENST00000513201.1:n.483-7203T>G | ||
| NM_001080477.2:c.233-7203T>G | NP_001073946.1:n.233-7203T>G | |
| NM_001080477.3:c.233-7203T>G | NP_001073946.1:n.233-7203T>G | |
| XM_017008385.1:c.233-7203T>G | XP_016863874.1:n.233-7203T>G | |
| XM_017008386.1:c.233-7203T>G | XP_016863875.1:n.233-7203T>G | |
| XM_017008387.2:c.233-7203T>G | XP_016863876.1:n.233-7203T>G | |
| XM_017008388.1:c.233-7203T>G | XP_016863877.1:n.233-7203T>G | |
| XM_017008389.1:c.233-7203T>G | XP_016863878.1:n.233-7203T>G | |
| XM_017008390.1:c.233-7203T>G | XP_016863879.1:n.233-7203T>G | |
| XM_017008391.1:c.233-7203T>G | XP_016863880.1:n.233-7203T>G | |
| XM_017008392.1:c.233-7203T>G | XP_016863881.1:n.233-7203T>G | |
| XM_017008393.1:c.233-7203T>G | XP_016863882.1:n.233-7203T>G | |
| XM_017008394.1:c.232+15196T>G | XP_016863883.1:n.232+15196T>G | |
| NM_001080477.4:c.233-7203T>G MANE Select | NP_001073946.1:n.233-7203T>G |