Linked Data
dbSNP Id:
rs11135380
gnomAD v2:
5-156182048-G-A
gnomAD v3:
5-156755037-G-A
gnomAD v4:
5-156755037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.156755037G>A , CM000667.2:g.156755037G>A | GRCh38 |
| NC_000005.9:g.156182048G>A , CM000667.1:g.156182048G>A | GRCh37 |
| NC_000005.8:g.156114626G>A | NCBI36 |
| NG_008693.2:g.889695G>A , LRG_205:g.889695G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337851.9:c.576-2544G>A MANE Select | ENSP00000338343.4:n.576-2544G>A | |
| ENST00000337851.8:c.576-2544G>A | ENSP00000338343.4:n.576-2544G>A | |
| ENST00000435422.7:c.573-2544G>A | ENSP00000403003.2:n.573-2544G>A | |
| ENST00000517913.5:c.576-2544G>A | ENSP00000429378.1:n.576-2544G>A | |
| NM_000337.5:c.576-2544G>A , LRG_205t1:c.576-2544G>A | NP_000328.2:n.576-2544G>A | |
| NM_001128209.1:c.573-2544G>A | NP_001121681.1:n.573-2544G>A | |
| NM_172244.2:c.576-2544G>A | NP_758447.1:n.576-2544G>A | |
| XM_005265966.3:c.576-2544G>A | XP_005266023.1:n.576-2544G>A | |
| XM_005265967.1:c.503-2544G>A | XP_005266024.1:n.503-2544G>A | |
| XM_006714911.2:c.576-2544G>A | XP_006714974.1:n.576-2544G>A | |
| XM_011534621.1:c.573-2544G>A | XP_011532923.1:n.573-2544G>A | |
| XM_005265966.5:c.576-2544G>A | XP_005266023.1:n.576-2544G>A | |
| XM_005265967.2:c.503-2544G>A | XP_005266024.1:n.503-2544G>A | |
| XM_011534621.2:c.573-2544G>A | XP_011532923.1:n.573-2544G>A | |
| XM_017009723.2:c.576-2544G>A | XP_016865212.1:n.576-2544G>A | |
| XM_017009724.1:c.576-2544G>A | XP_016865213.1:n.576-2544G>A | |
| NM_001128209.2:c.573-2544G>A | NP_001121681.1:n.573-2544G>A | |
| NM_172244.3:c.576-2544G>A | NP_758447.1:n.576-2544G>A | |
| NM_000337.6:c.576-2544G>A MANE Select | NP_000328.2:n.576-2544G>A |