Linked Data
dbSNP Id:
rs2459976
gnomAD v2:
11-113642993-G-A
gnomAD v3:
11-113772271-G-A
gnomAD v4:
11-113772271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113772271G>A , CM000673.2:g.113772271G>A | GRCh38 |
| NC_000011.9:g.113642993G>A , CM000673.1:g.113642993G>A | GRCh37 |
| NC_000011.8:g.113148203G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000200135.8:c.105+1291C>T MANE Select | ENSP00000200135.3:n.105+1291C>T | |
| ENST00000200135.7:c.105+1291C>T | ENSP00000200135.3:n.105+1291C>T | |
| ENST00000535142.5:c.105+1291C>T | ENSP00000440879.1:n.105+1291C>T | |
| ENST00000538209.1:c.105+1291C>T | ENSP00000439197.1:n.105+1291C>T | |
| NM_004724.3:c.105+1291C>T | NP_004715.1:n.105+1291C>T | |
| XM_017018558.2:c.105+1291C>T | XP_016874047.1:n.105+1291C>T | |
| XM_017018559.2:c.-572+1291C>T | XP_016874048.1:n.-572+1291C>T | |
| NM_004724.4:c.105+1291C>T MANE Select | NP_004715.1:n.105+1291C>T |