Linked Data
dbSNP Id:
rs762990839
ExAC:
12:12038916 A / G
gnomAD v2:
12-12038916-A-G
gnomAD v4:
12-11885982-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11885982A>G , CM000674.2:g.11885982A>G | GRCh38 |
| NC_000012.11:g.12038916A>G , CM000674.1:g.12038916A>G | GRCh37 |
| NC_000012.10:g.11930183A>G | NCBI36 |
| NG_011443.1:g.241129A>G , LRG_609:g.241129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396373.9:c.1209A>G MANE Select | ENSP00000379658.3:p.Lys403= | |
| ENST00000266427.3:c.46A>G | ||
| ENST00000396373.8:c.1209A>G | ENSP00000379658.3:p.Lys403= | |
| NM_001987.4:c.1209A>G , LRG_609t1:c.1209A>G | NP_001978.1:p.Lys403= | |
| XM_011520607.1:c.1206A>G | XP_011518909.1:p.Lys402= | |
| XM_011520608.1:c.1182A>G | XP_011518910.1:p.Lys394= | |
| XM_011520609.1:c.945A>G | XP_011518911.1:p.Lys315= | |
| XM_011520610.1:c.945A>G | XP_011518912.1:p.Lys315= | |
| XM_011520611.1:c.945A>G | XP_011518913.1:p.Lys315= | |
| XM_011520612.1:c.588A>G | XP_011518914.1:p.Lys196= | |
| XM_011520607.2:c.1206A>G | XP_011518909.1:p.Lys402= | |
| XM_011520608.2:c.1182A>G | XP_011518910.1:p.Lys394= | |
| XM_011520609.2:c.945A>G | XP_011518911.1:p.Lys315= | |
| XM_011520611.2:c.945A>G | XP_011518913.1:p.Lys315= | |
| XM_011520612.2:c.588A>G | XP_011518914.1:p.Lys196= | |
| XM_017018990.1:c.1074A>G | XP_016874479.1:p.Lys358= | |
| XM_017018991.1:c.945A>G | XP_016874480.1:p.Lys315= | |
| NM_001987.5:c.1209A>G MANE Select | NP_001978.1:p.Lys403= |