Linked Data
dbSNP Id:
rs372118555
ExAC:
9:3856190 A / G
gnomAD v2:
9-3856190-A-G
gnomAD v4:
9-3856190-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.3856190A>G , CM000671.2:g.3856190A>G | GRCh38 |
| NC_000009.11:g.3856190A>G , CM000671.1:g.3856190A>G | GRCh37 |
| NC_000009.10:g.3846190A>G | NCBI36 |
| NG_011782.1:g.448846T>C | |
| NG_011782.2:g.448846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464391.2:n.856-6T>C | ||
| ENST00000491889.6:c.*1661-6T>C | ENSP00000419914.1:n.*1661-6T>C | |
| ENST00000645252.2:n.740-6T>C | ||
| ENST00000682749.1:c.1833-6T>C | ENSP00000507306.1:n.1833-6T>C | |
| ENST00000682846.1:c.132-26698T>C | ENSP00000507527.1:n.132-26698T>C | |
| ENST00000682864.1:n.797-6T>C | ||
| ENST00000381971.8:c.2298-6T>C MANE Select | ENSP00000371398.3:n.2298-6T>C | |
| ENST00000645252.1:n.740-6T>C | ||
| ENST00000324333.14:c.1833-6T>C | ENSP00000325494.10:n.1833-6T>C | |
| ENST00000381971.7:c.2298-6T>C | ENSP00000371398.3:n.2298-6T>C | |
| ENST00000461870.5:n.654-6T>C | ||
| ENST00000467497.6:n.838-6T>C | ||
| NM_001042413.1:c.2298-6T>C | NP_001035878.1:n.2298-6T>C | |
| NM_152629.3:c.1833-6T>C | NP_689842.3:n.1833-6T>C | |
| XM_005251386.3:c.1833-6T>C | XP_005251443.1:n.1833-6T>C | |
| XM_005251387.3:c.1632-6T>C | XP_005251444.1:n.1632-6T>C | |
| XM_005251388.3:c.1632-6T>C | XP_005251445.1:n.1632-6T>C | |
| XM_011517763.1:c.2298-6T>C | XP_011516065.1:n.2298-6T>C | |
| XM_011517764.1:c.2298-6T>C | XP_011516066.1:n.2298-6T>C | |
| XM_011517765.1:c.2298-6T>C | XP_011516067.1:n.2298-6T>C | |
| XM_011517766.1:c.1833-6T>C | XP_011516068.1:n.1833-6T>C | |
| XM_011517767.1:c.1632-6T>C | XP_011516069.1:n.1632-6T>C | |
| XM_005251386.4:c.1833-6T>C | XP_005251443.1:n.1833-6T>C | |
| XM_005251387.4:c.1632-6T>C | XP_005251444.1:n.1632-6T>C | |
| XM_005251388.4:c.1632-6T>C | XP_005251445.1:n.1632-6T>C | |
| XM_011517763.2:c.2298-6T>C | XP_011516065.1:n.2298-6T>C | |
| XM_011517764.2:c.2298-6T>C | XP_011516066.1:n.2298-6T>C | |
| XM_011517765.2:c.2298-6T>C | XP_011516067.1:n.2298-6T>C | |
| XM_011517766.2:c.1833-6T>C | XP_011516068.1:n.1833-6T>C | |
| XM_011517767.3:c.1632-6T>C | XP_011516069.1:n.1632-6T>C | |
| XM_017014361.1:c.1833-6T>C | XP_016869850.1:n.1833-6T>C | |
| NM_001042413.2:c.2298-6T>C MANE Select | NP_001035878.1:n.2298-6T>C | |
| NM_152629.4:c.1833-6T>C | NP_689842.3:n.1833-6T>C |