Linked Data
dbSNP Id:
rs1460054780
gnomAD v2:
4-86674175-A-T
gnomAD v3:
4-85753022-A-T
gnomAD v4:
4-85753022-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.85753022A>T , CM000666.2:g.85753022A>T | GRCh38 |
| NC_000004.11:g.86674175A>T , CM000666.1:g.86674175A>T | GRCh37 |
| NC_000004.10:g.86893199A>T | NCBI36 |
| NG_051627.1:g.282892A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395184.6:c.268+31050A>T MANE Select | ENSP00000378611.1:n.268+31050A>T | |
| ENST00000395184.5:c.268+31050A>T | ENSP00000378611.1:n.268+31050A>T | |
| ENST00000503995.5:c.268+31050A>T | ENSP00000423206.1:n.268+31050A>T | |
| ENST00000512201.5:c.-18+31050A>T | ENSP00000426105.1:n.-18+31050A>T | |
| NM_001025616.2:c.268+31050A>T | NP_001020787.2:n.268+31050A>T | |
| XM_005263263.3:c.268+31050A>T | XP_005263320.1:n.268+31050A>T | |
| XM_024454238.1:c.-18+31050A>T | XP_024310006.1:n.-18+31050A>T | |
| XM_024454239.1:c.-18+31050A>T | XP_024310007.1:n.-18+31050A>T | |
| NM_001025616.3:c.268+31050A>T MANE Select | NP_001020787.2:n.268+31050A>T |