Linked Data
dbSNP Id:
rs763435711
ExAC:
1:204128581 T / C
gnomAD v2:
1-204128581-T-C
gnomAD v3:
1-204159453-T-C
gnomAD v4:
1-204159453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159453T>C , CM000663.2:g.204159453T>C | GRCh38 |
| NC_000001.10:g.204128581T>C , CM000663.1:g.204128581T>C | GRCh37 |
| NC_000001.9:g.202395204T>C | NCBI36 |
| NG_012122.1:g.11885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.635A>G MANE Select | ENSP00000272190.8:p.Asn212Ser | |
| ENST00000638118.1:c.521A>G | ENSP00000490307.1:p.Asn174Ser | |
| ENST00000272190.8:c.635A>G | ENSP00000272190.8:p.Asn212Ser | |
| NM_000537.3:c.635A>G | NP_000528.1:p.Asn212Ser | |
| NM_000537.4:c.635A>G MANE Select | NP_000528.1:p.Asn212Ser |