Linked Data
dbSNP Id:
rs774806903
ExAC:
7:137776559 G / A
gnomAD v2:
7-137776559-G-A
gnomAD v4:
7-138091813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091813G>A , CM000669.2:g.138091813G>A | GRCh38 |
| NC_000007.13:g.137776559G>A , CM000669.1:g.137776559G>A | GRCh37 |
| NC_000007.12:g.137427099G>A | NCBI36 |
| NG_023342.1:g.20382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.307G>A MANE Select | ENSP00000242375.3:p.Glu103Lys | |
| ENST00000242375.7:c.307G>A | ENSP00000242375.3:p.Glu103Lys | |
| ENST00000411726.6:c.307G>A | ENSP00000402374.2:p.Glu103Lys | |
| ENST00000432161.5:c.307G>A | ENSP00000389197.1:p.Glu103Lys | |
| ENST00000438242.1:c.139G>A | ENSP00000397042.1:p.Glu47Lys | |
| ENST00000468877.2:n.222-5G>A | ||
| NM_001190906.1:c.307G>A | NP_001177835.1:p.Glu103Lys | |
| NM_001190907.1:c.307G>A | NP_001177836.1:p.Glu103Lys | |
| NM_005989.3:c.307G>A | NP_005980.1:p.Glu103Lys | |
| NM_005989.4:c.307G>A MANE Select | NP_005980.1:p.Glu103Lys | |
| NM_001190906.2:c.307G>A | NP_001177835.1:p.Glu103Lys | |
| NM_001190907.2:c.307G>A | NP_001177836.1:p.Glu103Lys |