Linked Data
dbSNP Id:
rs782439716
ExAC:
12:6979492 T / C
gnomAD v2:
12-6979492-T-C
gnomAD v4:
12-6870328-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870328T>C , CM000674.2:g.6870328T>C | GRCh38 |
| NC_000012.11:g.6979492T>C , CM000674.1:g.6979492T>C | GRCh37 |
| NC_000012.10:g.6849753T>C | NCBI36 |
| NG_011948.1:g.7909T>C | |
| NG_013308.1:g.8030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.695T>C MANE Select | ENSP00000379933.4:p.Val232Ala | |
| ENST00000229270.8:c.806T>C | ENSP00000229270.4:p.Val269Ala | |
| ENST00000396705.9:c.695T>C | ENSP00000379933.4:p.Val232Ala | |
| ENST00000474253.1:n.184T>C | ||
| ENST00000488464.6:c.449T>C | ENSP00000475620.1:p.Val150Ala | |
| ENST00000535434.5:c.449T>C | ENSP00000443599.1:p.Val150Ala | |
| ENST00000613953.4:c.806T>C | ENSP00000484435.1:p.Val269Ala | |
| NM_000365.5:c.695T>C | NP_000356.1:p.Val232Ala | |
| NM_001159287.1:c.806T>C | NP_001152759.1:p.Val269Ala | |
| NM_001258026.1:c.449T>C | NP_001244955.1:p.Val150Ala | |
| XR_002957378.1:n.1703T>C | ||
| NM_000365.6:c.695T>C MANE Select | NP_000356.1:p.Val232Ala | |
| NM_001258026.2:c.449T>C | NP_001244955.1:p.Val150Ala |