Linked Data
dbSNP Id:
rs747389613
ExAC:
12:69140303 T / C
gnomAD v2:
12-69140303-T-C
gnomAD v4:
12-68746523-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68746523T>C , CM000674.2:g.68746523T>C | GRCh38 |
| NC_000012.11:g.69140303T>C , CM000674.1:g.69140303T>C | GRCh37 |
| NC_000012.10:g.67426570T>C | NCBI36 |
| NG_046600.2:g.64573T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319429.7:n.389T>C | ||
| ENST00000398004.4:c.146T>C MANE Select | ENSP00000381089.2:p.Val49Ala | |
| ENST00000673712.1:c.146T>C | ENSP00000501065.1:p.Val49Ala | |
| ENST00000674096.1:c.146T>C | ENSP00000501130.1:p.Val49Ala | |
| ENST00000398004.3:c.146T>C | ENSP00000381089.2:p.Val49Ala | |
| NM_018656.2:c.146T>C | NP_061126.2:p.Val49Ala | |
| XM_005269006.2:c.146T>C | XP_005269063.1:p.Val49Ala | |
| NM_001354997.1:c.146T>C | NP_001341926.1:p.Val49Ala | |
| NM_001354998.1:c.146T>C | NP_001341927.1:p.Val49Ala | |
| NM_018656.3:c.146T>C | NP_061126.2:p.Val49Ala | |
| NR_149143.1:n.438T>C | ||
| NR_149144.1:n.438T>C | ||
| NM_001354997.3:c.146T>C | NP_001341926.1:p.Val49Ala | |
| NM_001354998.2:c.146T>C | NP_001341927.1:p.Val49Ala | |
| NM_018656.5:c.146T>C MANE Select | NP_061126.2:p.Val49Ala | |
| NR_149143.3:n.348T>C | ||
| NR_149144.3:n.348T>C |