Linked Data
ClinVar Variation Id:
3211029
ClinVar RCV Id:
RCV004505417
dbSNP Id:
rs2093032811
gnomAD v3:
17-42571563-T-C
gnomAD v4:
17-42571563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571563T>C , CM000679.2:g.42571563T>C | GRCh38 |
| NC_000017.10:g.40723581T>C , CM000679.1:g.40723581T>C | GRCh37 |
| NC_000017.9:g.37977107T>C | NCBI36 |
| NG_029442.1:g.9504T>C | |
| NG_031960.1:g.11269A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.695T>C MANE Select | ENSP00000416627.1:p.Val232Ala | |
| ENST00000246912.8:c.857T>C | ENSP00000246912.3:p.Val286Ala | |
| ENST00000346833.8:c.605T>C | ENSP00000320913.3:p.Val202Ala | |
| ENST00000435881.6:c.695T>C | ENSP00000416627.1:p.Val232Ala | |
| ENST00000585403.5:n.902T>C | ||
| ENST00000588320.1:n.1171T>C | ||
| ENST00000590050.5:n.861T>C | ||
| NM_170607.2:c.857T>C | NP_733752.1:p.Val286Ala | |
| NM_198204.1:c.695T>C | NP_937847.1:p.Val232Ala | |
| NM_198205.1:c.605T>C | NP_937848.1:p.Val202Ala | |
| NM_198204.2:c.695T>C MANE Select | NP_937847.1:p.Val232Ala | |
| NM_170607.3:c.857T>C | NP_733752.1:p.Val286Ala | |
| NM_198205.2:c.605T>C | NP_937848.1:p.Val202Ala |