Linked Data
ClinVar Variation Id:
493398
ClinVar RCV Id:
RCV000585250
dbSNP Id:
rs1157231980
gnomAD v2:
4-122254006-A-C
gnomAD v3:
4-121332851-A-C
gnomAD v4:
4-121332851-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121332851A>C , CM000666.2:g.121332851A>C | GRCh38 |
| NC_000004.11:g.122254006A>C , CM000666.1:g.122254006A>C | GRCh37 |
| NC_000004.10:g.122473456A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394427.3:c.767T>G MANE Select | ENSP00000377948.2:p.Ile256Ser | |
| ENST00000334383.9:c.684+83T>G | ENSP00000335610.5:n.684+83T>G | |
| ENST00000394427.2:c.767T>G | ENSP00000377948.2:p.Ile256Ser | |
| ENST00000507331.5:c.898T>G | ENSP00000423369.1:n.898T>G | |
| NM_198179.2:c.767T>G | NP_937822.2:p.Ile256Ser | |
| XM_011532316.1:c.293T>G | XP_011530618.1:p.Ile98Ser | |
| NM_198179.3:c.767T>G MANE Select | NP_937822.2:p.Ile256Ser |