Linked Data
dbSNP Id:
rs10090896
gnomAD v2:
8-70680983-G-A
gnomAD v3:
8-69768748-G-A
gnomAD v4:
8-69768748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.69768748G>A , CM000670.2:g.69768748G>A | GRCh38 |
| NC_000008.10:g.70680983G>A , CM000670.1:g.70680983G>A | GRCh37 |
| NC_000008.9:g.70843537G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260126.9:c.908-6873C>T MANE Select | ENSP00000260126.3:n.908-6873C>T | |
| ENST00000260126.8:c.908-6873C>T | ENSP00000260126.3:n.908-6873C>T | |
| ENST00000524945.5:c.908-6873C>T | ENSP00000434422.1:n.908-6873C>T | |
| ENST00000526750.1:c.907+63019C>T | ENSP00000432676.1:n.907+63019C>T | |
| ENST00000528658.1:n.1517-6873C>T | ||
| ENST00000530307.1:c.908-6873C>T | ENSP00000431611.1:n.908-6873C>T | |
| ENST00000532388.5:n.1573-6873C>T | ||
| NM_001146008.1:c.908-6873C>T | NP_001139480.1:n.908-6873C>T | |
| NM_001146009.1:c.908-6873C>T | NP_001139481.1:n.908-6873C>T | |
| NM_030958.2:c.908-6873C>T | NP_112220.2:n.908-6873C>T | |
| XM_005251313.2:c.908-6873C>T | XP_005251370.1:n.908-6873C>T | |
| XR_428341.2:n.1615-6873C>T | ||
| XR_928814.1:n.1615-6873C>T | ||
| XM_017013883.1:c.908-6873C>T | XP_016869372.1:n.908-6873C>T | |
| XM_017013884.1:c.908-6873C>T | XP_016869373.1:n.908-6873C>T | |
| XM_017013885.1:c.-6+4173C>T | XP_016869374.1:n.-6+4173C>T | |
| XM_017013886.1:c.908-6873C>T | XP_016869375.1:n.908-6873C>T | |
| NM_030958.3:c.908-6873C>T MANE Select | NP_112220.2:n.908-6873C>T | |
| NM_001146008.2:c.908-6873C>T | NP_001139480.1:n.908-6873C>T |