Linked Data
dbSNP Id:
rs780557867
ExAC:
4:47408892 A / G
gnomAD v2:
4-47408892-A-G
gnomAD v4:
4-47406875-A-G
COSMIC:
COSM4399881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406875A>G , CM000666.2:g.47406875A>G | GRCh38 |
| NC_000004.11:g.47408892A>G , CM000666.1:g.47408892A>G | GRCh37 |
| NC_000004.10:g.47103649A>G | NCBI36 |
| NG_051831.1:g.380598A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1029A>G MANE Select | ENSP00000295454.3:p.Lys343= | |
| ENST00000295454.7:c.1029A>G | ENSP00000295454.3:p.Lys343= | |
| NM_000812.3:c.1029A>G | NP_000803.2:p.Lys343= | |
| XM_011513678.1:c.1008A>G | XP_011511980.1:p.Lys336= | |
| XM_017007985.1:c.378A>G | XP_016863474.1:p.Lys126= | |
| XM_024453976.1:c.930A>G | XP_024309744.1:p.Lys310= | |
| XM_024453977.1:c.930A>G | XP_024309745.1:p.Lys310= | |
| XM_024453978.1:c.930A>G | XP_024309746.1:p.Lys310= | |
| NM_000812.4:c.1029A>G MANE Select | NP_000803.2:p.Lys343= |