Linked Data
ClinVar Variation Id:
2233119
ClinVar RCV Id:
RCV004094133
dbSNP Id:
rs865824062
gnomAD v4:
5-122450934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122450934C>T , CM000667.2:g.122450934C>T | GRCh38 |
| NC_000005.9:g.121786629C>T , CM000667.1:g.121786629C>T | GRCh37 |
| NC_000005.8:g.121814528C>T | NCBI36 |
| NG_011486.1:g.143810C>T | |
| NG_011486.2:g.143810C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261368.13:c.2087C>T MANE Select | ENSP00000261368.8:p.Ala696Val | |
| ENST00000261367.11:c.2228C>T | ENSP00000261367.7:p.Ala743Val | |
| ENST00000261368.12:c.2087C>T | ENSP00000261368.8:p.Ala696Val | |
| ENST00000379538.7:c.989C>T | ENSP00000368854.3:p.Ala330Val | |
| ENST00000395466.6:c.1215C>T | ENSP00000378849.2:n.1215C>T | |
| ENST00000395469.6:c.2453C>T | ENSP00000378852.2:n.2453C>T | |
| ENST00000414317.6:c.921C>T | ENSP00000394392.3:n.921C>T | |
| ENST00000504884.6:c.1215C>T | ENSP00000426904.2:n.1215C>T | |
| ENST00000508017.5:c.*834C>T | ENSP00000424338.1:n.*834C>T | |
| ENST00000509023.5:c.*732C>T | ENSP00000427078.1:n.*732C>T | |
| ENST00000509154.6:c.1907C>T | ENSP00000422106.2:p.Ala636Val | |
| ENST00000510658.5:c.*889C>T | ENSP00000426526.1:n.*889C>T | |
| ENST00000512146.6:c.1176C>T | ENSP00000423360.2:n.1176C>T | |
| ENST00000512385.5:c.*834C>T | ENSP00000426280.1:n.*834C>T | |
| ENST00000513719.1:n.1072C>T | ||
| ENST00000515215.6:c.1035C>T | ENSP00000427575.2:n.1035C>T | |
| ENST00000542191.5:c.*834C>T | ENSP00000441681.2:n.*834C>T | |
| NM_001242935.1:c.989C>T | NP_001229864.1:p.Ala330Val | |
| NM_001242935.2:c.989C>T | NP_001229864.1:p.Ala330Val | |
| NM_001308100.1:c.2228C>T | NP_001295029.1:p.Ala743Val | |
| NM_001308105.1:c.1907C>T | NP_001295034.1:p.Ala636Val | |
| NM_001308106.1:c.983C>T | NP_001295035.1:p.Ala328Val | |
| NM_001308107.1:c.989C>T | NP_001295036.1:p.Ala330Val | |
| NM_001308108.1:c.1169C>T | NP_001295037.1:p.Ala390Val | |
| NM_001308109.1:c.875C>T | NP_001295038.1:p.Ala292Val | |
| NM_005460.2:c.2087C>T | NP_005451.2:p.Ala696Val | |
| NM_005460.3:c.2087C>T | NP_005451.2:p.Ala696Val | |
| NR_051996.1:n.464-268G>A | ||
| NR_131761.1:n.2499C>T | ||
| NR_131762.1:n.1228C>T | ||
| XM_005272138.3:c.2087C>T | XP_005272195.1:p.Ala696Val | |
| XM_005272139.1:c.2087C>T | XP_005272196.1:p.Ala696Val | |
| XM_006714734.2:c.2087C>T | XP_006714797.1:p.Ala696Val | |
| XM_011543736.1:c.2228C>T | XP_011542038.1:p.Ala743Val | |
| XM_011543737.1:c.2228C>T | XP_011542039.1:p.Ala743Val | |
| XM_011543738.1:c.2228C>T | XP_011542040.1:p.Ala743Val | |
| XM_011543739.1:c.2228C>T | XP_011542041.1:p.Ala743Val | |
| XM_011543741.1:c.2228C>T | XP_011542043.1:p.Ala743Val | |
| XM_011543742.1:c.2228C>T | XP_011542044.1:p.Ala743Val | |
| XM_011543743.1:c.2228C>T | XP_011542045.1:p.Ala743Val | |
| XM_011543744.1:c.2228C>T | XP_011542046.1:p.Ala743Val | |
| XM_011543745.1:c.2087C>T | XP_011542047.1:p.Ala696Val | |
| XM_011543746.1:c.2228C>T | XP_011542048.1:p.Ala743Val | |
| XM_011543747.1:c.2048C>T | XP_011542049.1:p.Ala683Val | |
| XM_011543748.1:c.1907C>T | XP_011542050.1:p.Ala636Val | |
| XM_011543749.1:c.1007C>T | XP_011542051.1:p.Ala336Val | |
| XM_011543750.1:c.983C>T | XP_011542052.1:p.Ala328Val | |
| XM_005272138.4:c.2087C>T | XP_005272195.1:p.Ala696Val | |
| XM_011543737.2:c.2228C>T | XP_011542039.1:p.Ala743Val | |
| XM_011543738.2:c.2228C>T | XP_011542040.1:p.Ala743Val | |
| XM_011543741.2:c.2228C>T | XP_011542043.1:p.Ala743Val | |
| XM_011543743.2:c.2228C>T | XP_011542045.1:p.Ala743Val | |
| XM_011543749.2:c.1007C>T | XP_011542051.1:p.Ala336Val | |
| XM_017010078.1:c.2228C>T | XP_016865567.1:p.Ala743Val | |
| XM_017010079.1:c.2228C>T | XP_016865568.1:p.Ala743Val | |
| XM_017010080.1:c.2228C>T | XP_016865569.1:p.Ala743Val | |
| XM_017010081.1:c.2228C>T | XP_016865570.1:p.Ala743Val | |
| XM_017010082.1:c.2087C>T | XP_016865571.1:p.Ala696Val | |
| XM_017010083.1:c.1007C>T | XP_016865572.1:p.Ala336Val | |
| XM_017010085.1:c.983C>T | XP_016865574.1:p.Ala328Val | |
| XM_024446266.1:c.2087C>T | XP_024302034.1:p.Ala696Val | |
| XM_024446267.1:c.2087C>T | XP_024302035.1:p.Ala696Val | |
| XM_024446268.1:c.2087C>T | XP_024302036.1:p.Ala696Val | |
| XM_024446269.1:c.1007C>T | XP_024302037.1:p.Ala336Val | |
| XR_001742362.1:n.2641C>T | ||
| NM_005460.4:c.2087C>T MANE Select | NP_005451.2:p.Ala696Val | |
| NM_001308100.2:c.2228C>T | NP_001295029.1:p.Ala743Val | |
| NM_001308107.2:c.989C>T | NP_001295036.1:p.Ala330Val | |
| NM_001308109.2:c.875C>T | NP_001295038.1:p.Ala292Val | |
| NM_001242935.3:c.989C>T | NP_001229864.1:p.Ala330Val |