Linked Data
ClinVar Variation Id:
2277822
ClinVar RCV Id:
RCV004129160
dbSNP Id:
rs1414496827
gnomAD v2:
8-18258211-G-C
gnomAD v3:
8-18400701-G-C
gnomAD v4:
8-18400701-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400701G>C , CM000670.2:g.18400701G>C | GRCh38 |
| NC_000008.10:g.18258211G>C , CM000670.1:g.18258211G>C | GRCh37 |
| NC_000008.9:g.18302491G>C | NCBI36 |
| NG_012246.1:g.14457G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.698G>C MANE Select | ENSP00000286479.3:p.Cys233Ser | |
| ENST00000286479.3:c.698G>C | ENSP00000286479.3:p.Cys233Ser | |
| ENST00000520116.1:c.308G>C | ENSP00000428416.1:p.Cys103Ser | |
| NM_000015.2:c.698G>C | NP_000006.2:p.Cys233Ser | |
| XM_011544358.1:c.698G>C | XP_011542660.1:p.Cys233Ser | |
| XM_017012938.1:c.698G>C | XP_016868427.1:p.Cys233Ser | |
| NM_000015.3:c.698G>C MANE Select | NP_000006.2:p.Cys233Ser |