Linked Data
dbSNP Id:
rs1274393352
gnomAD v2:
1-207697214-T-C
gnomAD v3:
1-207523869-T-C
gnomAD v4:
1-207523869-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207523869T>C , CM000663.2:g.207523869T>C | GRCh38 |
| NC_000001.10:g.207697214T>C , CM000663.1:g.207697214T>C | GRCh37 |
| NC_000001.9:g.205763837T>C | NCBI36 |
| NG_007481.1:g.32742T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.746T>C MANE Select | ENSP00000356016.4:p.Val249Ala | |
| ENST00000367051.6:c.487+12215T>C | ENSP00000356018.1:n.487+12215T>C | |
| ENST00000367052.6:c.746T>C | ENSP00000356019.1:p.Val249Ala | |
| ENST00000367053.6:c.746T>C | ENSP00000356020.1:p.Val249Ala | |
| ENST00000400960.7:c.746T>C | ENSP00000383744.2:p.Val249Ala | |
| ENST00000367049.8:c.746T>C | ENSP00000356016.4:p.Val249Ala | |
| ENST00000367050.8:n.867T>C | ||
| ENST00000367051.5:c.487+12215T>C | ENSP00000356018.1:n.487+12215T>C | |
| ENST00000367052.5:c.746T>C | ENSP00000356019.1:p.Val249Ala | |
| ENST00000367053.5:c.746T>C | ENSP00000356020.1:p.Val249Ala | |
| ENST00000400960.6:c.746T>C | ENSP00000383744.2:p.Val249Ala | |
| ENST00000434033.5:n.673T>C | ||
| ENST00000436595.1:n.414+12215T>C | ||
| ENST00000450439.5:n.673T>C | ||
| ENST00000529814.1:c.673T>C | ||
| ENST00000534202.5:c.746T>C | ENSP00000436139.2:p.Val249Ala | |
| NM_000573.3:c.746T>C | NP_000564.2:p.Val249Ala | |
| NM_000651.4:c.746T>C | NP_000642.3:p.Val249Ala | |
| XM_006711166.2:c.761T>C | XP_006711229.1:p.Val254Ala | |
| XM_011509205.1:c.761T>C | XP_011507507.1:p.Val254Ala | |
| NM_000651.5:c.746T>C | NP_000642.3:p.Val249Ala | |
| XM_024453287.1:c.761T>C | XP_024309055.1:p.Val254Ala | |
| NM_000573.4:c.746T>C | NP_000564.2:p.Val249Ala | |
| NM_000651.6:c.746T>C MANE Select | NP_000642.3:p.Val249Ala |