Linked Data
dbSNP Id:
rs7826834
gnomAD v2:
8-62401962-C-T
gnomAD v3:
8-61489403-C-T
gnomAD v4:
8-61489403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.61489403C>T , CM000670.2:g.61489403C>T | GRCh38 |
| NC_000008.10:g.62401962C>T , CM000670.1:g.62401962C>T | GRCh37 |
| NC_000008.9:g.62564516C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325897.5:c.978-10052C>T MANE Select | ENSP00000325506.4:n.978-10052C>T | |
| ENST00000325897.4:c.978-10052C>T | ENSP00000325506.4:n.978-10052C>T | |
| ENST00000518592.5:c.141-10052C>T | ENSP00000429869.1:n.141-10052C>T | |
| ENST00000518858.1:n.1235-10052C>T | ||
| ENST00000519846.5:c.978-10052C>T | ENSP00000428402.1:n.978-10052C>T | |
| ENST00000520712.1:c.141-10052C>T | ENSP00000429544.1:n.141-10052C>T | |
| NM_173519.2:c.978-10052C>T | NP_775790.1:n.978-10052C>T | |
| XM_011517470.1:c.1011-10052C>T | XP_011515772.1:n.1011-10052C>T | |
| XM_011517471.1:c.1011-10052C>T | XP_011515773.1:n.1011-10052C>T | |
| XM_011517472.1:c.978-10052C>T | XP_011515774.1:n.978-10052C>T | |
| XM_011517473.1:c.801-10052C>T | XP_011515775.1:n.801-10052C>T | |
| XM_017013141.2:c.978-10052C>T | XP_016868630.1:n.978-10052C>T | |
| XM_017013142.2:c.978-10052C>T | XP_016868631.1:n.978-10052C>T | |
| XM_024447079.1:c.978-10052C>T | XP_024302847.1:n.978-10052C>T | |
| NM_173519.3:c.978-10052C>T MANE Select | NP_775790.1:n.978-10052C>T |