SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
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 |