Linked Data
dbSNP Id:
rs9352774
gnomAD v2:
6-64014812-A-C
gnomAD v3:
6-63304907-A-C
gnomAD v4:
6-63304907-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63304907A>C , CM000668.2:g.63304907A>C | GRCh38 |
| NC_000006.11:g.64014812A>C , CM000668.1:g.64014812A>C | GRCh37 |
| NC_000006.10:g.64072771A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370657.9:c.31-9862T>G MANE Select | ENSP00000359691.4:n.31-9862T>G | |
| ENST00000370657.8:c.31-9862T>G | ENSP00000359691.4:n.31-9862T>G | |
| ENST00000370658.9:c.31-9862T>G | ENSP00000359692.5:n.31-9862T>G | |
| ENST00000485906.6:c.31-9862T>G | ENSP00000431246.2:n.31-9862T>G | |
| ENST00000622415.1:c.31-9862T>G | ENSP00000479173.1:n.31-9862T>G | |
| NM_001143940.1:c.31-9862T>G | NP_001137412.1:n.31-9862T>G | |
| NM_016571.2:c.31-9862T>G | NP_057655.2:n.31-9862T>G | |
| XM_011535889.1:c.85-9862T>G | XP_011534191.1:n.85-9862T>G | |
| XM_011535890.1:c.-42-9862T>G | XP_011534192.1:n.-42-9862T>G | |
| XM_011535891.1:c.-42-9862T>G | XP_011534193.1:n.-42-9862T>G | |
| XM_011535892.1:c.-42-9862T>G | XP_011534194.1:n.-42-9862T>G | |
| XM_011535889.3:c.85-9862T>G | XP_011534191.1:n.85-9862T>G | |
| XM_011535892.3:c.-42-9862T>G | XP_011534194.1:n.-42-9862T>G | |
| XM_017010929.2:c.85-9862T>G | XP_016866418.1:n.85-9862T>G | |
| XM_017010930.2:c.85-9862T>G | XP_016866419.1:n.85-9862T>G | |
| XM_017010931.2:c.-42-9862T>G | XP_016866420.1:n.-42-9862T>G | |
| NM_016571.3:c.31-9862T>G MANE Select | NP_057655.2:n.31-9862T>G | |
| NM_001143940.2:c.31-9862T>G | NP_001137412.1:n.31-9862T>G |