Linked Data
dbSNP Id:
rs576679510
gnomAD v2:
11-2604470-G-A
gnomAD v3:
11-2583240-G-A
gnomAD v4:
11-2583240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583240G>A , CM000673.2:g.2583240G>A | GRCh38 |
| NC_000011.9:g.2604470G>A , CM000673.1:g.2604470G>A | GRCh37 |
| NC_000011.8:g.2561046G>A | NCBI36 |
| NG_008935.1:g.143250G>A , LRG_287:g.143250G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.661-195G>A | ENSP00000434560.2:n.661-195G>A | |
| ENST00000646564.2:c.478-195G>A | ENSP00000495806.2:n.478-195G>A | |
| ENST00000155840.12:c.922-195G>A MANE Select | ENSP00000155840.2:n.922-195G>A | |
| ENST00000335475.6:c.541-195G>A | ENSP00000334497.5:n.541-195G>A | |
| ENST00000646564.1:c.124-195G>A | ENSP00000495806.1:n.124-195G>A | |
| ENST00000155840.9:c.922-195G>A | ENSP00000155840.2:n.922-195G>A | |
| ENST00000335475.5:c.541-195G>A | ENSP00000334497.5:n.541-195G>A | |
| NM_000218.2:c.922-195G>A , LRG_287t1:c.922-195G>A | NP_000209.2:n.922-195G>A | |
| NM_181798.1:c.541-195G>A , LRG_287t2:c.541-195G>A | NP_861463.1:n.541-195G>A | |
| NM_000218.3:c.922-195G>A MANE Select | NP_000209.2:n.922-195G>A |