Linked Data
dbSNP Id:
rs121908082
ExAC:
2:1491613 C / G
gnomAD v2:
2-1491613-C-G
gnomAD v4:
2-1487841-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.1487841C>G , CM000664.2:g.1487841C>G | GRCh38 |
| NC_000002.11:g.1491613C>G , CM000664.1:g.1491613C>G | GRCh37 |
| NC_000002.10:g.1470620C>G | NCBI36 |
| NG_011581.1:g.79379C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329066.9:c.1618C>G MANE Select | ENSP00000329869.4:p.Arg540Gly | |
| ENST00000329066.8:c.1618C>G | ENSP00000329869.4:p.Arg540Gly | |
| ENST00000345913.8:c.1618C>G | ENSP00000318820.7:p.Arg540Gly | |
| ENST00000346956.7:c.1618C>G | ENSP00000263886.6:p.Arg540Gly | |
| ENST00000382198.5:c.1099C>G | ENSP00000371633.1:p.Arg367Gly | |
| ENST00000382201.7:c.1597+2987C>G | ENSP00000371636.3:n.1597+2987C>G | |
| ENST00000422464.5:c.1405C>G | ENSP00000405788.1:p.Arg469Gly | |
| ENST00000446278.5:c.192+2987C>G | ||
| ENST00000462973.5:n.186+2987C>G | ||
| ENST00000469607.3:c.190+2987C>G | ENSP00000419461.1:n.190+2987C>G | |
| ENST00000497517.6:n.439+2987C>G | ||
| NM_000547.5:c.1618C>G | NP_000538.3:p.Arg540Gly | |
| NM_001206744.1:c.1618C>G | NP_001193673.1:p.Arg540Gly | |
| NM_001206745.1:c.1597+2987C>G | NP_001193674.1:n.1597+2987C>G | |
| NM_175719.3:c.1597+2987C>G | NP_783650.1:n.1597+2987C>G | |
| NM_175721.3:c.1618C>G | NP_783652.1:p.Arg540Gly | |
| NM_175722.3:c.1099C>G | NP_783653.1:p.Arg367Gly | |
| XM_011510379.1:c.1618C>G | XP_011508681.1:p.Arg540Gly | |
| XM_011510380.1:c.1618C>G | XP_011508682.1:p.Arg540Gly | |
| XM_011510381.1:c.1597+2987C>G | XP_011508683.1:n.1597+2987C>G | |
| XR_922681.1:n.1619C>G | ||
| XM_011510380.3:c.1654C>G | XP_011508682.2:p.Arg552Gly | |
| XM_024453085.1:c.1654C>G | XP_024308853.1:p.Arg552Gly | |
| XM_024453086.1:c.1654C>G | XP_024308854.1:p.Arg552Gly | |
| XM_024453087.1:c.1618C>G | XP_024308855.1:p.Arg540Gly | |
| XM_024453088.1:c.1618C>G | XP_024308856.1:p.Arg540Gly | |
| XM_024453089.1:c.1618C>G | XP_024308857.1:p.Arg540Gly | |
| XM_024453090.1:c.1654C>G | XP_024308858.1:p.Arg552Gly | |
| XM_024453091.1:c.1633+2987C>G | XP_024308859.1:n.1633+2987C>G | |
| XM_024453092.1:c.1633+2987C>G | XP_024308860.1:n.1633+2987C>G | |
| XM_024453093.1:c.1135C>G | XP_024308861.1:p.Arg379Gly | |
| NM_001206744.2:c.1618C>G MANE Select | NP_001193673.1:p.Arg540Gly | |
| NM_000547.6:c.1618C>G | NP_000538.3:p.Arg540Gly | |
| NM_001206745.2:c.1597+2987C>G | NP_001193674.1:n.1597+2987C>G | |
| NM_175719.4:c.1597+2987C>G | NP_783650.1:n.1597+2987C>G |