Linked Data
dbSNP Id:
rs766471312
gnomAD v2:
20-32856793-G-T
gnomAD v3:
20-34268987-G-T
gnomAD v4:
20-34268987-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34268987G>T , CM000682.2:g.34268987G>T | GRCh38 |
| NC_000020.10:g.32856793G>T , CM000682.1:g.32856793G>T | GRCh37 |
| NC_000020.9:g.32320454G>T | NCBI36 |
| NG_011439.1:g.13623G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374954.4:c.223-4G>T (ASIP) MANE Select | ENSP00000364092.3:n.223-4G>T | |
| ENST00000374954.3:c.223-4G>T (ASIP) | ENSP00000364092.3:n.223-4G>T | |
| ENST00000568305.5:c.223-4G>T (ASIP) | ENSP00000454804.1:n.223-4G>T | |
| NM_001672.2:c.223-4G>T (ASIP) | NP_001663.2:n.223-4G>T | |
| XM_005260412.2:c.235-4G>T (ASIP) | XP_005260469.1:n.235-4G>T | |
| XM_011528657.1:c.*7+12040C>A (AHCY) | XP_011526959.1:n.*7+12040C>A | |
| XM_011528820.1:c.223-4G>T (ASIP) | XP_011527122.1:n.223-4G>T | |
| XM_011528821.1:c.223-4G>T (ASIP) | XP_011527123.1:n.223-4G>T | |
| XM_011528822.1:c.223-4G>T (ASIP) | XP_011527124.1:n.223-4G>T | |
| XM_011528823.1:c.223-4G>T (ASIP) | XP_011527125.1:n.223-4G>T | |
| XM_005260412.3:c.235-4G>T (ASIP) | XP_005260469.1:n.235-4G>T | |
| XM_011528657.2:c.*7+12040C>A (AHCY) | XP_011526959.2:n.*7+12040C>A | |
| XM_011528820.2:c.223-4G>T (ASIP) | XP_011527122.1:n.223-4G>T | |
| NM_001385218.1:c.223-4G>T (ASIP) | NP_001372147.1:n.223-4G>T | |
| NM_001672.3:c.223-4G>T (ASIP) MANE Select | NP_001663.2:n.223-4G>T |