Linked Data
dbSNP Id:
rs776887237
ExAC:
5:147510883 A / G
gnomAD v2:
5-147510883-A-G
gnomAD v4:
5-148131320-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131320A>G , CM000667.2:g.148131320A>G | GRCh38 |
| NC_000005.9:g.147510883A>G , CM000667.1:g.147510883A>G | GRCh37 |
| NC_000005.8:g.147491076A>G | NCBI36 |
| NG_009633.1:g.72349A>G , LRG_110:g.72349A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.3026A>G MANE Select | ENSP00000256084.7:p.Asp1009Gly | |
| ENST00000256084.7:c.3026A>G | ENSP00000256084.7:p.Asp1009Gly | |
| ENST00000359874.7:c.3116A>G | ENSP00000352936.3:p.Asp1039Gly | |
| NM_001127698.1:c.3116A>G | NP_001121170.1:p.Asp1039Gly | |
| NM_006846.3:c.3026A>G , LRG_110t1:c.3026A>G | NP_006837.2:p.Asp1009Gly | |
| XM_011537550.1:c.3059A>G | XP_011535852.1:p.Asp1020Gly | |
| XM_011537551.1:c.3032A>G | XP_011535853.1:p.Asp1011Gly | |
| XM_011537551.2:c.3032A>G | XP_011535853.1:p.Asp1011Gly | |
| NM_001127698.2:c.3116A>G | NP_001121170.1:p.Asp1039Gly | |
| NM_006846.4:c.3026A>G MANE Select | NP_006837.2:p.Asp1009Gly |