Linked Data
dbSNP Id:
rs7028939
gnomAD v2:
9-102808685-A-G
gnomAD v3:
9-100046403-A-G
gnomAD v4:
9-100046403-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100046403A>G , CM000671.2:g.100046403A>G | GRCh38 |
| NC_000009.11:g.102808685A>G , CM000671.1:g.102808685A>G | GRCh37 |
| NC_000009.10:g.101848506A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684842.1:c.286+6014T>C | ENSP00000509528.1:n.286+6014T>C | |
| ENST00000685319.1:n.220-24177T>C | ||
| ENST00000685432.1:n.1597+6014T>C | ||
| ENST00000686275.1:c.286+6014T>C | ENSP00000510307.1:n.286+6014T>C | |
| ENST00000687017.1:c.286+6014T>C | ENSP00000508446.1:n.286+6014T>C | |
| ENST00000687025.1:c.170+11417T>C | ENSP00000510130.1:n.170+11417T>C | |
| ENST00000687093.1:c.100+6014T>C | ENSP00000509315.1:n.100+6014T>C | |
| ENST00000688230.1:c.286+6014T>C | ENSP00000509300.1:n.286+6014T>C | |
| ENST00000689406.1:c.286+6014T>C | ENSP00000509116.1:n.286+6014T>C | |
| ENST00000690317.1:c.286+6014T>C | ENSP00000508466.1:n.286+6014T>C | |
| ENST00000690739.1:c.100+6014T>C | ENSP00000508834.1:n.100+6014T>C | |
| ENST00000691188.1:c.*30+6014T>C | ENSP00000509263.1:n.*30+6014T>C | |
| ENST00000691823.1:n.437+6014T>C | ||
| ENST00000262455.7:c.286+6014T>C MANE Select | ENSP00000262455.6:n.286+6014T>C | |
| ENST00000262455.6:c.286+6014T>C | ENSP00000262455.6:n.286+6014T>C | |
| NM_015051.2:c.286+6014T>C | NP_055866.1:n.286+6014T>C | |
| NM_015051.3:c.286+6014T>C MANE Select | NP_055866.1:n.286+6014T>C |