Linked Data
dbSNP Id:
rs1418453394
gnomAD v2:
3-50230834-C-A
gnomAD v3:
3-50193401-C-A
gnomAD v4:
3-50193401-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193401C>A , CM000665.2:g.50193401C>A | GRCh38 |
| NC_000003.11:g.50230834C>A , CM000665.1:g.50230834C>A | GRCh37 |
| NC_000003.10:g.50205838C>A | NCBI36 |
| NG_009831.1:g.6792C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.286C>A MANE Select | ENSP00000232461.3:p.Arg96Ser | |
| ENST00000232461.7:c.286C>A | ENSP00000232461.3:p.Arg96Ser | |
| ENST00000433068.5:c.286C>A | ENSP00000387555.1:p.Arg96Ser | |
| ENST00000440836.1:c.142C>A | ENSP00000403537.1:p.Arg48Ser | |
| NM_000172.3:c.286C>A | NP_000163.2:p.Arg96Ser | |
| NM_144499.2:c.286C>A | NP_653082.1:p.Arg96Ser | |
| XM_011533595.1:c.142C>A | XP_011531897.1:p.Arg48Ser | |
| XM_011533596.1:c.142C>A | XP_011531898.1:p.Arg48Ser | |
| XR_940416.1:n.566C>A | ||
| NM_000172.4:c.286C>A | NP_000163.2:p.Arg96Ser | |
| NM_144499.3:c.286C>A MANE Select | NP_653082.1:p.Arg96Ser |