Linked Data
dbSNP Id:
rs17689437
gnomAD v2:
16-68600351-C-T
gnomAD v3:
16-68566448-C-T
gnomAD v4:
16-68566448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68566448C>T , CM000678.2:g.68566448C>T | GRCh38 |
| NC_000016.9:g.68600351C>T , CM000678.1:g.68600351C>T | GRCh37 |
| NC_000016.8:g.67157852C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563169.7:c.*1750C>T MANE Select | ENSP00000454418.2:n.*1750C>T | |
| ENST00000398253.6:c.*1750C>T | ENSP00000381304.2:n.*1750C>T | |
| ENST00000564558.5:c.*3576C>T | ENSP00000457129.1:n.*3576C>T | |
| ENST00000570495.5:c.*1750C>T | ENSP00000460547.1:n.*1750C>T | |
| ENST00000573113.3:c.223+7880C>T | ENSP00000458410.2:n.223+7880C>T | |
| ENST00000611381.4:c.256+7880C>T | ENSP00000480309.1:n.256+7880C>T | |
| NM_001305203.1:c.*1750C>T | NP_001292132.1:n.*1750C>T | |
| NM_001305204.1:c.256+7880C>T | NP_001292133.1:n.256+7880C>T | |
| NM_001305206.1:c.*3434C>T | NP_001292135.1:n.*3434C>T | |
| NM_001305207.1:c.*3434C>T | NP_001292136.1:n.*3434C>T | |
| NM_001305208.1:c.*3434C>T | NP_001292137.1:n.*3434C>T | |
| NM_133458.2:c.*1750C>T | NP_597715.2:n.*1750C>T | |
| NM_133458.3:c.*1750C>T | NP_597715.2:n.*1750C>T | |
| NR_130976.1:n.4061C>T | ||
| NR_130977.1:n.4011C>T | ||
| NR_130978.1:n.4069C>T | ||
| XM_005255804.2:c.*1750C>T | XP_005255861.1:n.*1750C>T | |
| XM_011522873.1:c.256+7880C>T | XP_011521175.1:n.256+7880C>T | |
| XM_017022952.2:c.*1750C>T | XP_016878441.1:n.*1750C>T | |
| XM_024450159.1:c.*1750C>T | XP_024305927.1:n.*1750C>T | |
| NM_001305203.2:c.*1750C>T MANE Select | NP_001292132.1:n.*1750C>T | |
| NM_001305206.2:c.*3434C>T | NP_001292135.1:n.*3434C>T | |
| NM_001305207.2:c.*3434C>T | NP_001292136.1:n.*3434C>T | |
| NM_001305208.2:c.*3434C>T | NP_001292137.1:n.*3434C>T | |
| NM_133458.4:c.*1750C>T | NP_597715.2:n.*1750C>T | |
| NR_130976.2:n.3983C>T | ||
| NR_130977.2:n.3933C>T | ||
| NR_130978.2:n.3991C>T | ||
| NM_001305204.2:c.256+7880C>T | NP_001292133.1:n.256+7880C>T |