Linked Data
dbSNP Id:
rs3116494
gnomAD v2:
2-204592021-G-A
gnomAD v3:
2-203727298-G-A
gnomAD v4:
2-203727298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203727298G>A , CM000664.2:g.203727298G>A | GRCh38 |
| NC_000002.11:g.204592021G>A , CM000664.1:g.204592021G>A | GRCh37 |
| NC_000002.10:g.204300266G>A | NCBI36 |
| NG_029618.1:g.25824G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324106.9:c.409+309G>A MANE Select | ENSP00000324890.7:n.409+309G>A | |
| ENST00000324106.8:c.409+309G>A | ENSP00000324890.7:n.409+309G>A | |
| ENST00000374481.7:c.53-2350G>A | ENSP00000363605.4:n.53-2350G>A | |
| ENST00000458610.6:c.451+309G>A | ENSP00000393648.2:n.451+309G>A | |
| NM_001243077.1:c.118+600G>A | NP_001230006.1:n.118+600G>A | |
| NM_001243078.1:c.53-2350G>A | NP_001230007.1:n.53-2350G>A | |
| NM_006139.3:c.409+309G>A | NP_006130.1:n.409+309G>A | |
| XM_006712862.2:c.133+309G>A | XP_006712925.1:n.133+309G>A | |
| XM_011512194.1:c.451+309G>A | XP_011510496.1:n.451+309G>A | |
| XM_011512195.1:c.199+309G>A | XP_011510497.1:n.199+309G>A | |
| XM_011512196.1:c.160+600G>A | XP_011510498.1:n.160+600G>A | |
| XM_011512197.1:c.157+309G>A | XP_011510499.1:n.157+309G>A | |
| XM_011512194.2:c.451+309G>A | XP_011510496.1:n.451+309G>A | |
| XM_011512195.3:c.199+309G>A | XP_011510497.1:n.199+309G>A | |
| XM_011512197.2:c.157+309G>A | XP_011510499.1:n.157+309G>A | |
| NM_006139.4:c.409+309G>A MANE Select | NP_006130.1:n.409+309G>A | |
| NM_001243077.2:c.118+600G>A | NP_001230006.1:n.118+600G>A | |
| NM_001243078.2:c.53-2350G>A | NP_001230007.1:n.53-2350G>A |