Linked Data
dbSNP Id:
rs548887660
gnomAD v2:
10-71218029-C-T
gnomAD v3:
10-69458273-C-T
gnomAD v4:
10-69458273-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69458273C>T , CM000672.2:g.69458273C>T | GRCh38 |
| NC_000010.10:g.71218029C>T , CM000672.1:g.71218029C>T | GRCh37 |
| NC_000010.9:g.70888035C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373290.7:c.96+6583C>T MANE Select | ENSP00000362387.2:n.96+6583C>T | |
| ENST00000373290.6:c.96+6583C>T | ENSP00000362387.2:n.96+6583C>T | |
| ENST00000478112.1:n.214+6583C>T | ||
| NM_012339.3:c.96+6583C>T | NP_036471.1:n.96+6583C>T | |
| XM_005269667.3:c.96+6583C>T | XP_005269724.1:n.96+6583C>T | |
| XM_006717738.2:c.25-25418C>T | XP_006717801.1:n.25-25418C>T | |
| XR_945642.1:n.226+6583C>T | ||
| NM_001351263.1:c.96+6583C>T | NP_001338192.1:n.96+6583C>T | |
| NM_012339.4:c.96+6583C>T | NP_036471.1:n.96+6583C>T | |
| NR_147091.1:n.224+6583C>T | ||
| XM_017016010.1:c.96+6583C>T | XP_016871499.1:n.96+6583C>T | |
| XR_001747072.1:n.227+6583C>T | ||
| XR_001747073.1:n.227+6583C>T | ||
| XR_001747074.1:n.224+6583C>T | ||
| NM_012339.5:c.96+6583C>T MANE Select | NP_036471.1:n.96+6583C>T | |
| NM_001351263.2:c.96+6583C>T | NP_001338192.1:n.96+6583C>T | |
| NR_147091.2:n.226+6583C>T |