Linked Data
dbSNP Id:
rs370751789
ExAC:
1:24175144 A / G
gnomAD v2:
1-24175144-A-G
gnomAD v3:
1-23848654-A-G
gnomAD v4:
1-23848654-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848654A>G , CM000663.2:g.23848654A>G | GRCh38 |
| NC_000001.10:g.24175144A>G , CM000663.1:g.24175144A>G | GRCh37 |
| NC_000001.9:g.24047731A>G | NCBI36 |
| NG_013346.1:g.24716T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1155T>C MANE Select | ENSP00000363603.3:p.Ser385= | |
| ENST00000374479.3:c.1155T>C | ENSP00000363603.3:p.Ser385= | |
| NM_000147.4:c.1155T>C | NP_000138.2:p.Ser385= | |
| XM_005245821.1:c.780T>C | XP_005245878.1:p.Ser260= | |
| XM_011541167.1:c.522T>C | XP_011539469.1:p.Ser174= | |
| XM_005245821.3:c.780T>C | XP_005245878.1:p.Ser260= | |
| XM_011541167.3:c.522T>C | XP_011539469.1:p.Ser174= | |
| XM_017000905.2:c.852T>C | XP_016856394.1:p.Ser284= | |
| NM_000147.5:c.1155T>C MANE Select | NP_000138.2:p.Ser385= | |
| NR_174379.1:n.1333T>C | ||
| NR_174380.1:n.1382T>C | ||
| NR_174381.1:n.1221T>C | ||
| NR_174382.1:n.1618T>C |