Linked Data
ClinVar Variation Id:
350488
ClinVar RCV Id:
RCV000323147
dbSNP Id:
rs147594642
ExAC:
5:121759097 C / T
gnomAD v2:
5-121759097-C-T
gnomAD v3:
5-122423402-C-T
gnomAD v4:
5-122423402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.122423402C>T , CM000667.2:g.122423402C>T | GRCh38 |
| NC_000005.9:g.121759097C>T , CM000667.1:g.121759097C>T | GRCh37 |
| NC_000005.8:g.121786996C>T | NCBI36 |
| NG_011486.1:g.116278C>T | |
| NG_011486.2:g.116278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261368.13:c.665C>T MANE Select | ENSP00000261368.8:p.Ser222Leu | |
| ENST00000261367.11:c.806C>T | ENSP00000261367.7:p.Ser269Leu | |
| ENST00000261368.12:c.665C>T | ENSP00000261368.8:p.Ser222Leu | |
| ENST00000379538.7:c.85-8567C>T | ENSP00000368854.3:n.85-8567C>T | |
| ENST00000395466.6:c.131-1950C>T | ENSP00000378849.2:n.131-1950C>T | |
| ENST00000395469.6:c.806C>T | ENSP00000378852.2:p.Ser269Leu | |
| ENST00000414317.6:c.131-17227C>T | ENSP00000394392.3:n.131-17227C>T | |
| ENST00000504884.6:c.131-1950C>T | ENSP00000426904.2:n.131-1950C>T | |
| ENST00000508017.5:c.131-8567C>T | ENSP00000424338.1:n.131-8567C>T | |
| ENST00000509023.5:c.131-17227C>T | ENSP00000427078.1:n.131-17227C>T | |
| ENST00000509154.6:c.665C>T | ENSP00000422106.2:p.Ser222Leu | |
| ENST00000510003.5:n.759C>T | ||
| ENST00000510658.5:c.131-8567C>T | ENSP00000426526.1:n.131-8567C>T | |
| ENST00000512146.6:c.272-8567C>T | ENSP00000423360.2:n.272-8567C>T | |
| ENST00000512385.5:c.131-8567C>T | ENSP00000426280.1:n.131-8567C>T | |
| ENST00000515215.6:c.131-8567C>T | ENSP00000427575.2:n.131-8567C>T | |
| ENST00000542191.5:c.272-8567C>T | ENSP00000441681.2:n.272-8567C>T | |
| NM_001242935.1:c.85-8567C>T | NP_001229864.1:n.85-8567C>T | |
| NM_001242935.2:c.85-8567C>T | NP_001229864.1:n.85-8567C>T | |
| NM_001308100.1:c.806C>T | NP_001295029.1:p.Ser269Leu | |
| NM_001308105.1:c.665C>T | NP_001295034.1:p.Ser222Leu | |
| NM_001308106.1:c.79-8567C>T | NP_001295035.1:n.79-8567C>T | |
| NM_001308107.1:c.85-8567C>T | NP_001295036.1:n.85-8567C>T | |
| NM_001308108.1:c.85-1950C>T | NP_001295037.1:n.85-1950C>T | |
| NM_001308109.1:c.85-17227C>T | NP_001295038.1:n.85-17227C>T | |
| NM_005460.2:c.665C>T | NP_005451.2:p.Ser222Leu | |
| NM_005460.3:c.665C>T | NP_005451.2:p.Ser222Leu | |
| NR_131761.1:n.852C>T | ||
| NR_131762.1:n.269-8567C>T | ||
| XM_005272138.3:c.665C>T | XP_005272195.1:p.Ser222Leu | |
| XM_005272139.1:c.665C>T | XP_005272196.1:p.Ser222Leu | |
| XM_006714734.2:c.665C>T | XP_006714797.1:p.Ser222Leu | |
| XM_011543736.1:c.806C>T | XP_011542038.1:p.Ser269Leu | |
| XM_011543737.1:c.806C>T | XP_011542039.1:p.Ser269Leu | |
| XM_011543738.1:c.806C>T | XP_011542040.1:p.Ser269Leu | |
| XM_011543739.1:c.806C>T | XP_011542041.1:p.Ser269Leu | |
| XM_011543741.1:c.806C>T | XP_011542043.1:p.Ser269Leu | |
| XM_011543742.1:c.806C>T | XP_011542044.1:p.Ser269Leu | |
| XM_011543743.1:c.806C>T | XP_011542045.1:p.Ser269Leu | |
| XM_011543744.1:c.806C>T | XP_011542046.1:p.Ser269Leu | |
| XM_011543745.1:c.665C>T | XP_011542047.1:p.Ser222Leu | |
| XM_011543746.1:c.806C>T | XP_011542048.1:p.Ser269Leu | |
| XM_011543747.1:c.806C>T | XP_011542049.1:p.Ser269Leu | |
| XM_011543748.1:c.665C>T | XP_011542050.1:p.Ser222Leu | |
| XM_011543749.1:c.103-8567C>T | XP_011542051.1:n.103-8567C>T | |
| XM_011543750.1:c.79-8567C>T | XP_011542052.1:n.79-8567C>T | |
| XM_005272138.4:c.665C>T | XP_005272195.1:p.Ser222Leu | |
| XM_011543737.2:c.806C>T | XP_011542039.1:p.Ser269Leu | |
| XM_011543738.2:c.806C>T | XP_011542040.1:p.Ser269Leu | |
| XM_011543741.2:c.806C>T | XP_011542043.1:p.Ser269Leu | |
| XM_011543743.2:c.806C>T | XP_011542045.1:p.Ser269Leu | |
| XM_011543749.2:c.103-8567C>T | XP_011542051.1:n.103-8567C>T | |
| XM_017010078.1:c.806C>T | XP_016865567.1:p.Ser269Leu | |
| XM_017010079.1:c.806C>T | XP_016865568.1:p.Ser269Leu | |
| XM_017010080.1:c.806C>T | XP_016865569.1:p.Ser269Leu | |
| XM_017010081.1:c.806C>T | XP_016865570.1:p.Ser269Leu | |
| XM_017010082.1:c.665C>T | XP_016865571.1:p.Ser222Leu | |
| XM_017010083.1:c.103-8567C>T | XP_016865572.1:n.103-8567C>T | |
| XM_017010084.1:c.806C>T | XP_016865573.1:p.Ser269Leu | |
| XM_017010085.1:c.79-8567C>T | XP_016865574.1:n.79-8567C>T | |
| XM_017010086.1:c.806C>T | XP_016865575.1:p.Ser269Leu | |
| XM_024446266.1:c.665C>T | XP_024302034.1:p.Ser222Leu | |
| XM_024446267.1:c.665C>T | XP_024302035.1:p.Ser222Leu | |
| XM_024446268.1:c.665C>T | XP_024302036.1:p.Ser222Leu | |
| XM_024446269.1:c.103-8567C>T | XP_024302037.1:n.103-8567C>T | |
| XR_001742362.1:n.994C>T | ||
| XR_001742363.1:n.990C>T | ||
| XR_001742364.1:n.990C>T | ||
| XR_001742365.2:n.990C>T | ||
| XR_001742366.1:n.989C>T | ||
| NM_005460.4:c.665C>T MANE Select | NP_005451.2:p.Ser222Leu | |
| NM_001308100.2:c.806C>T | NP_001295029.1:p.Ser269Leu | |
| NM_001308107.2:c.85-8567C>T | NP_001295036.1:n.85-8567C>T | |
| NM_001308109.2:c.85-17227C>T | NP_001295038.1:n.85-17227C>T | |
| NM_001242935.3:c.85-8567C>T | NP_001229864.1:n.85-8567C>T |