Linked Data
dbSNP Id:
rs1464301284
gnomAD v2:
10-62548328-A-G
gnomAD v3:
10-60788570-A-G
gnomAD v4:
10-60788570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60788570A>G , CM000672.2:g.60788570A>G | GRCh38 |
| NC_000010.10:g.62548328A>G , CM000672.1:g.62548328A>G | GRCh37 |
| NC_000010.9:g.62218334A>G | NCBI36 |
| NG_029877.1:g.15240A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395284.8:c.489+340A>G MANE Select | ENSP00000378699.3:n.489+340A>G | |
| ENST00000316629.8:c.318+2783A>G | ENSP00000325970.4:n.318+2783A>G | |
| ENST00000373809.2:c.318+2783A>G | ENSP00000362915.2:n.318+2783A>G | |
| ENST00000395284.7:c.489+340A>G | ENSP00000378699.3:n.489+340A>G | |
| ENST00000448257.6:c.493+336A>G | ENSP00000397973.2:n.493+336A>G | |
| ENST00000487784.1:n.564+336A>G | ||
| ENST00000519078.6:c.489+340A>G | ENSP00000430665.2:n.489+340A>G | |
| ENST00000614696.4:c.489+340A>G | ENSP00000482996.1:n.489+340A>G | |
| NM_001786.4:c.489+340A>G | NP_001777.1:n.489+340A>G | |
| NM_033379.4:c.318+2783A>G | NP_203698.1:n.318+2783A>G | |
| XM_005270303.2:c.489+340A>G | XP_005270360.1:n.489+340A>G | |
| XM_006718082.1:c.489+340A>G | XP_006718145.1:n.489+340A>G | |
| NM_001320918.1:c.489+340A>G | NP_001307847.1:n.489+340A>G | |
| XM_005270303.3:c.489+340A>G | XP_005270360.1:n.489+340A>G | |
| NM_001786.5:c.489+340A>G MANE Select | NP_001777.1:n.489+340A>G | |
| NM_033379.5:c.318+2783A>G | NP_203698.1:n.318+2783A>G |