Linked Data
dbSNP Id:
rs575622093
ExAC:
2:1491667 G / A
gnomAD v2:
2-1491667-G-A
gnomAD v3:
2-1487895-G-A
gnomAD v4:
2-1487895-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1487895G>A , CM000664.2:g.1487895G>A | GRCh38 |
| NC_000002.11:g.1491667G>A , CM000664.1:g.1491667G>A | GRCh37 |
| NC_000002.10:g.1470674G>A | NCBI36 |
| NG_011581.1:g.79433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329066.9:c.1672G>A MANE Select | ENSP00000329869.4:p.Glu558Lys | |
| ENST00000329066.8:c.1672G>A | ENSP00000329869.4:p.Glu558Lys | |
| ENST00000345913.8:c.1672G>A | ENSP00000318820.7:p.Glu558Lys | |
| ENST00000346956.7:c.1672G>A | ENSP00000263886.6:p.Glu558Lys | |
| ENST00000382198.5:c.1153G>A | ENSP00000371633.1:p.Glu385Lys | |
| ENST00000382201.7:c.1597+3041G>A | ENSP00000371636.3:n.1597+3041G>A | |
| ENST00000422464.5:c.1459G>A | ENSP00000405788.1:p.Glu487Lys | |
| ENST00000446278.5:c.192+3041G>A | ||
| ENST00000462973.5:n.186+3041G>A | ||
| ENST00000469607.3:c.190+3041G>A | ENSP00000419461.1:n.190+3041G>A | |
| ENST00000497517.6:n.439+3041G>A | ||
| NM_000547.5:c.1672G>A | NP_000538.3:p.Glu558Lys | |
| NM_001206744.1:c.1672G>A | NP_001193673.1:p.Glu558Lys | |
| NM_001206745.1:c.1597+3041G>A | NP_001193674.1:n.1597+3041G>A | |
| NM_175719.3:c.1597+3041G>A | NP_783650.1:n.1597+3041G>A | |
| NM_175721.3:c.1672G>A | NP_783652.1:p.Glu558Lys | |
| NM_175722.3:c.1153G>A | NP_783653.1:p.Glu385Lys | |
| XM_011510379.1:c.1672G>A | XP_011508681.1:p.Glu558Lys | |
| XM_011510380.1:c.1672G>A | XP_011508682.1:p.Glu558Lys | |
| XM_011510381.1:c.1597+3041G>A | XP_011508683.1:n.1597+3041G>A | |
| XR_922681.1:n.1673G>A | ||
| XM_011510380.3:c.1708G>A | XP_011508682.2:p.Glu570Lys | |
| XM_024453085.1:c.1708G>A | XP_024308853.1:p.Glu570Lys | |
| XM_024453086.1:c.1708G>A | XP_024308854.1:p.Glu570Lys | |
| XM_024453087.1:c.1672G>A | XP_024308855.1:p.Glu558Lys | |
| XM_024453088.1:c.1672G>A | XP_024308856.1:p.Glu558Lys | |
| XM_024453089.1:c.1672G>A | XP_024308857.1:p.Glu558Lys | |
| XM_024453090.1:c.1708G>A | XP_024308858.1:p.Glu570Lys | |
| XM_024453091.1:c.1633+3041G>A | XP_024308859.1:n.1633+3041G>A | |
| XM_024453092.1:c.1633+3041G>A | XP_024308860.1:n.1633+3041G>A | |
| XM_024453093.1:c.1189G>A | XP_024308861.1:p.Glu397Lys | |
| NM_001206744.2:c.1672G>A MANE Select | NP_001193673.1:p.Glu558Lys | |
| NM_000547.6:c.1672G>A | NP_000538.3:p.Glu558Lys | |
| NM_001206745.2:c.1597+3041G>A | NP_001193674.1:n.1597+3041G>A | |
| NM_175719.4:c.1597+3041G>A | NP_783650.1:n.1597+3041G>A |