Linked Data
dbSNP Id:
rs1122979
gnomAD v2:
7-150915071-G-A
gnomAD v3:
7-151217985-G-A
gnomAD v4:
7-151217985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151217985G>A , CM000669.2:g.151217985G>A | GRCh38 |
| NC_000007.13:g.150915071G>A , CM000669.1:g.150915071G>A | GRCh37 |
| NC_000007.12:g.150546004G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287844.7:c.1338+96C>T (ABCF2) MANE Select | ENSP00000287844.2:n.1338+96C>T | |
| ENST00000222388.6:c.1338+96C>T (ABCF2) | ENSP00000222388.2:n.1338+96C>T | |
| ENST00000287844.6:c.1338+96C>T (ABCF2) | ENSP00000287844.2:n.1338+96C>T | |
| NM_005692.4:c.1338+96C>T (ABCF2) | NP_005683.2:n.1338+96C>T | |
| NM_007189.2:c.1338+96C>T (ABCF2) | NP_009120.1:n.1338+96C>T | |
| XM_005249931.2:c.1338+96C>T (ABCF2) | XP_005249988.1:n.1338+96C>T | |
| XM_006715824.2:c.1338+96C>T (ABCF2) | XP_006715887.1:n.1338+96C>T | |
| XM_017011639.1:c.1338+96C>T (ABCF2) | XP_016867128.1:n.1338+96C>T | |
| XM_017011640.1:c.1338+96C>T (ABCF2) | XP_016867129.1:n.1338+96C>T | |
| NM_007189.3:c.1338+96C>T (ABCF2) MANE Select | NP_009120.1:n.1338+96C>T | |
| NR_160983.1:n.1423+96C>T (ABCF2-H2BK1) | ||
| NM_005692.5:c.1338+96C>T (ABCF2-H2BK1) | NP_005683.2:n.1338+96C>T |