Linked Data
dbSNP Id:
rs104669
gnomAD v2:
6-37354059-A-T
gnomAD v3:
6-37386283-A-T
gnomAD v4:
6-37386283-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37386283A>T , CM000668.2:g.37386283A>T | GRCh38 |
| NC_000006.11:g.37354059A>T , CM000668.1:g.37354059A>T | GRCh37 |
| NC_000006.10:g.37462037A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373479.9:c.1442-4459A>T MANE Select | ENSP00000362578.4:n.1442-4459A>T | |
| ENST00000229866.10:c.*1251-4459A>T | ENSP00000229866.6:n.*1251-4459A>T | |
| ENST00000373479.8:c.1442-4459A>T | ENSP00000362578.4:n.1442-4459A>T | |
| ENST00000469731.5:c.1237-4459A>T | ENSP00000418879.1:n.1237-4459A>T | |
| ENST00000498460.1:c.515-4459A>T | ||
| NM_003958.3:c.1442-4459A>T | NP_003949.1:n.1442-4459A>T | |
| NM_183078.2:c.1237-4459A>T | NP_898901.1:n.1237-4459A>T | |
| NR_046399.1:n.1741-4459A>T | ||
| XM_006715241.2:c.1352-4459A>T | XP_006715304.1:n.1352-4459A>T | |
| XM_006715242.2:c.1147-4459A>T | XP_006715305.1:n.1147-4459A>T | |
| XR_427853.2:n.1462-4459A>T | ||
| XR_427854.2:n.1666-4459A>T | ||
| XR_427855.2:n.1461-4459A>T | ||
| XR_427857.2:n.1371-4459A>T | ||
| XM_006715241.3:c.1352-4459A>T | XP_006715304.1:n.1352-4459A>T | |
| XM_006715242.3:c.1147-4459A>T | XP_006715305.1:n.1147-4459A>T | |
| XM_017011462.1:c.1271-4459A>T | XP_016866951.1:n.1271-4459A>T | |
| XM_017011463.1:c.1066-4459A>T | XP_016866952.1:n.1066-4459A>T | |
| XM_017011464.1:c.1033-4459A>T | XP_016866953.1:n.1033-4459A>T | |
| XR_001743731.2:n.1656-4459A>T | ||
| XR_001743734.2:n.1739-4459A>T | ||
| XR_427853.3:n.1451-4459A>T | ||
| NM_003958.4:c.1442-4459A>T MANE Select | NP_003949.1:n.1442-4459A>T | |
| NM_183078.3:c.1237-4459A>T | NP_898901.1:n.1237-4459A>T | |
| NR_046399.2:n.1730-4459A>T |