Linked Data
dbSNP Id:
rs772554345
ExAC:
21:45681064 T / G
gnomAD v2:
21-45681064-T-G
gnomAD v4:
21-44261181-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44261181T>G , CM000683.2:g.44261181T>G | GRCh38 |
| NC_000021.8:g.45681064T>G , CM000683.1:g.45681064T>G | GRCh37 |
| NC_000021.7:g.44505492T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628202.3:c.79A>C MANE Select | ENSP00000486001.1:p.Ser27Arg | |
| ENST00000270172.7:c.79A>C | ENSP00000270172.3:p.Ser27Arg | |
| ENST00000431166.1:c.79A>C | ENSP00000400242.1:p.Ser27Arg | |
| ENST00000628202.2:c.79A>C | ENSP00000486001.1:p.Ser27Arg | |
| NM_013369.3:c.79A>C | NP_037501.2:p.Ser27Arg | |
| NM_175867.2:c.79A>C | NP_787063.1:p.Ser27Arg | |
| XM_011529536.1:c.79A>C | XP_011527838.1:p.Ser27Arg | |
| NM_013369.4:c.79A>C | NP_037501.2:p.Ser27Arg | |
| NM_175867.3:c.79A>C MANE Select | NP_787063.1:p.Ser27Arg |