Linked Data
ClinVar Variation Id:
506243
dbSNP Id:
rs1360568237
gnomAD v2:
15-43908769-G-C
gnomAD v3:
15-43616571-G-C
gnomAD v4:
15-43616571-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43616571G>C , CM000677.2:g.43616571G>C | GRCh38 |
| NC_000015.9:g.43908769G>C , CM000677.1:g.43908769G>C | GRCh37 |
| NC_000015.8:g.41696061G>C | NCBI36 |
| NG_011636.1:g.7230C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.995C>G MANE Select | ENSP00000401513.2:p.Ser332Cys | |
| ENST00000643290.1:c.1320C>G | ENSP00000495476.1:n.1320C>G | |
| ENST00000428650.5:c.995C>G | ENSP00000415991.1:p.Ser332Cys | |
| ENST00000432436.1:c.815C>G | ENSP00000407303.1:p.Ser272Cys | |
| ENST00000440125.5:c.995C>G | ENSP00000394866.1:p.Ser332Cys | |
| ENST00000450892.6:c.995C>G | ENSP00000401513.2:p.Ser332Cys | |
| ENST00000541030.5:c.-1115C>G | ENSP00000440413.1:n.-1115C>G | |
| NM_153700.2:c.995C>G MANE Select | NP_714544.1:p.Ser332Cys | |
| XM_011521277.1:c.1484C>G | XP_011519579.1:p.Ser495Cys | |
| XM_011521278.1:c.1022C>G | XP_011519580.1:p.Ser341Cys | |
| XM_011521279.1:c.1022C>G | XP_011519581.1:p.Ser341Cys |