Linked Data
dbSNP Id:
rs1376678275
gnomAD v2:
2-172712451-G-C
gnomAD v3:
2-171855941-G-C
gnomAD v4:
2-171855941-G-C
COSMIC:
COSM717734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855941G>C , CM000664.2:g.171855941G>C | GRCh38 |
| NC_000002.11:g.172712451G>C , CM000664.1:g.172712451G>C | GRCh37 |
| NC_000002.10:g.172420697G>C | NCBI36 |
| NG_011781.1:g.43363C>G | |
| NG_011781.2:g.43363C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.218C>G MANE Select | ENSP00000388658.2:p.Ser73Cys | |
| ENST00000263812.8:c.210-11433C>G | ENSP00000263812.4:n.210-11433C>G | |
| ENST00000422440.6:c.218C>G | ENSP00000388658.2:p.Ser73Cys | |
| ENST00000426896.5:c.218C>G | ENSP00000413968.1:p.Ser73Cys | |
| ENST00000464063.1:n.539C>G | ||
| ENST00000472748.5:n.383C>G | ||
| ENST00000475360.6:c.206C>G | ENSP00000437845.1:p.Ser69Cys | |
| ENST00000484227.5:n.416C>G | ||
| NM_003705.4:c.218C>G | NP_003696.2:p.Ser73Cys | |
| NR_047549.1:n.302-11433C>G | ||
| XM_005246923.3:c.167C>G | XP_005246980.1:p.Ser56Cys | |
| XM_011512069.1:c.218C>G | XP_011510371.1:p.Ser73Cys | |
| XM_011512070.1:c.-160C>G | XP_011510372.1:n.-160C>G | |
| XM_011512070.3:c.-160C>G | XP_011510372.1:n.-160C>G | |
| NM_003705.5:c.218C>G MANE Select | NP_003696.2:p.Ser73Cys | |
| NR_047549.2:n.240-11433C>G |