Linked Data
dbSNP Id:
rs1526267
gnomAD v2:
9-102589745-T-C
gnomAD v3:
9-99827463-T-C
gnomAD v4:
9-99827463-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99827463T>C , CM000671.2:g.99827463T>C | GRCh38 |
| NC_000009.11:g.102589745T>C , CM000671.1:g.102589745T>C | GRCh37 |
| NC_000009.10:g.101629566T>C | NCBI36 |
| NG_028910.1:g.10609T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395097.7:c.-2-578T>C MANE Select | ENSP00000378531.2:n.-2-578T>C | |
| ENST00000330847.1:c.32-578T>C | ENSP00000333122.1:n.32-578T>C | |
| ENST00000338488.8:c.-2-578T>C | ENSP00000340301.4:n.-2-578T>C | |
| ENST00000395097.6:c.-2-578T>C | ENSP00000378531.2:n.-2-578T>C | |
| ENST00000618101.4:c.32-578T>C | ENSP00000482027.1:n.32-578T>C | |
| NM_006981.3:c.-2-578T>C | NP_008912.2:n.-2-578T>C | |
| NM_173199.2:c.-2-578T>C | NP_775291.1:n.-2-578T>C | |
| NM_173200.2:c.32-578T>C | NP_775292.1:n.32-578T>C | |
| XM_005252237.2:c.32-578T>C | XP_005252294.1:n.32-578T>C | |
| XM_011519048.1:c.-6T>C | XP_011517350.1:n.-6T>C | |
| XM_011519049.1:c.-6T>C | XP_011517351.1:n.-6T>C | |
| XM_017015162.1:c.-6T>C | XP_016870651.1:n.-6T>C | |
| NM_006981.4:c.-2-578T>C MANE Select | NP_008912.2:n.-2-578T>C | |
| NM_173199.3:c.-2-578T>C | NP_775291.1:n.-2-578T>C | |
| NM_173199.4:c.-2-578T>C | NP_775291.1:n.-2-578T>C | |
| NM_173200.3:c.32-578T>C | NP_775292.1:n.32-578T>C |