ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148124834A>G , CM000667.2:g.148124834A>G | GRCh38 |
| NC_000005.9:g.147504397A>G , CM000667.1:g.147504397A>G | GRCh37 |
| NC_000005.8:g.147484590A>G | NCBI36 |
| NG_009633.1:g.65863A>G , LRG_110:g.65863A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2736A>G MANE Select | ENSP00000256084.7:p.Ala912= | |
| ENST00000256084.7:c.2736A>G | ENSP00000256084.7:p.Ala912= | |
| ENST00000359874.7:c.2736A>G | ENSP00000352936.3:p.Ala912= | |
| ENST00000398454.5:c.2736A>G | ENSP00000381472.1:p.Ala912= | |
| NM_001127698.1:c.2736A>G | NP_001121170.1:p.Ala912= | |
| NM_001127699.1:c.2736A>G | NP_001121171.1:p.Ala912= | |
| NM_006846.3:c.2736A>G , LRG_110t1:c.2736A>G | NP_006837.2:p.Ala912= | |
| XM_011537550.1:c.2679A>G | XP_011535852.1:p.Ala893= | |
| XM_011537551.1:c.2652A>G | XP_011535853.1:p.Ala884= | |
| XM_011537551.2:c.2652A>G | XP_011535853.1:p.Ala884= | |
| NM_001127698.2:c.2736A>G | NP_001121170.1:p.Ala912= | |
| NM_001127699.2:c.2736A>G | NP_001121171.1:p.Ala912= | |
| NM_006846.4:c.2736A>G MANE Select | NP_006837.2:p.Ala912= |