Linked Data
dbSNP Id:
rs776330788
ExAC:
3:81695581 G / C
gnomAD v2:
3-81695581-G-C
gnomAD v3:
3-81646430-G-C
gnomAD v4:
3-81646430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646430G>C , CM000665.2:g.81646430G>C | GRCh38 |
| NC_000003.11:g.81695581G>C , CM000665.1:g.81695581G>C | GRCh37 |
| NC_000003.10:g.81778271G>C | NCBI36 |
| NG_011810.1:g.120371C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.744C>G MANE Select | ENSP00000410833.2:p.Ser248Arg | |
| ENST00000429644.6:c.744C>G | ENSP00000410833.2:p.Ser248Arg | |
| ENST00000489715.1:c.621C>G | ENSP00000419638.1:p.Ser207Arg | |
| ENST00000498468.1:n.294C>G | ||
| NM_000158.3:c.744C>G | NP_000149.3:p.Ser248Arg | |
| NM_000158.4:c.744C>G MANE Select | NP_000149.4:p.Ser248Arg |