Linked Data
ClinVar Variation Id:
323057
dbSNP Id:
rs779528702
ExAC:
17:38450210 T / C
gnomAD v2:
17-38450210-T-C
gnomAD v3:
17-40293958-T-C
gnomAD v4:
17-40293958-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40293958T>C , CM000679.2:g.40293958T>C | GRCh38 |
| NC_000017.10:g.38450210T>C , CM000679.1:g.38450210T>C | GRCh37 |
| NC_000017.9:g.35703736T>C | NCBI36 |
| NG_028240.1:g.11065T>C | |
| NG_028240.2:g.11080T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209728.9:c.845T>C MANE Select | ENSP00000209728.4:p.Val282Ala | |
| ENST00000649662.1:c.845T>C | ENSP00000497345.1:p.Val282Ala | |
| ENST00000209728.8:c.845T>C | ENSP00000209728.4:p.Val282Ala | |
| ENST00000582402.1:n.203-1398T>C | ||
| NM_001254.3:c.845T>C | NP_001245.1:p.Val282Ala | |
| XM_011525541.1:c.845T>C | XP_011523843.1:p.Val282Ala | |
| XM_011525542.1:c.845T>C | XP_011523844.1:p.Val282Ala | |
| NM_001254.4:c.845T>C MANE Select | NP_001245.1:p.Val282Ala | |
| XM_011525541.2:c.845T>C | XP_011523843.1:p.Val282Ala |