Linked Data
dbSNP Id:
rs3130660
gnomAD v2:
6-30706361-T-A
gnomAD v3:
6-30738584-T-A
gnomAD v4:
6-30738584-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30738584T>A , CM000668.2:g.30738584T>A | GRCh38 |
| NC_000006.11:g.30706361T>A , CM000668.1:g.30706361T>A | GRCh37 |
| NC_000006.10:g.30814340T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376389.8:c.723+1574A>T MANE Select | ENSP00000365569.3:n.723+1574A>T | |
| ENST00000376389.7:c.723+1574A>T | ENSP00000365569.3:n.723+1574A>T | |
| ENST00000413165.5:c.534+1574A>T | ENSP00000395333.1:n.534+1574A>T | |
| ENST00000438162.5:c.723+1574A>T | ENSP00000400615.1:n.723+1574A>T | |
| ENST00000476729.5:n.452+1574A>T | ||
| ENST00000487376.5:n.424+1574A>T | ||
| NM_005803.2:c.723+1574A>T | NP_005794.1:n.723+1574A>T | |
| XM_005248780.3:c.723+1574A>T | XP_005248837.1:n.723+1574A>T | |
| XM_005248781.3:c.579+1574A>T | XP_005248838.1:n.579+1574A>T | |
| XM_006714947.2:c.564+1574A>T | XP_006715010.1:n.564+1574A>T | |
| NM_001318875.1:c.579+1574A>T | NP_001305804.1:n.579+1574A>T | |
| NM_005803.3:c.723+1574A>T | NP_005794.1:n.723+1574A>T | |
| XM_006714947.3:c.564+1574A>T | XP_006715010.1:n.564+1574A>T | |
| XM_017010157.1:c.711+1574A>T | XP_016865646.1:n.711+1574A>T | |
| XM_017010158.1:c.612+1574A>T | XP_016865647.1:n.612+1574A>T | |
| NM_005803.4:c.723+1574A>T MANE Select | NP_005794.1:n.723+1574A>T | |
| NM_001318875.2:c.579+1574A>T | NP_001305804.1:n.579+1574A>T |