Linked Data
dbSNP Id:
rs803424
gnomAD v2:
6-151206166-C-T
gnomAD v3:
6-150885030-C-T
gnomAD v4:
6-150885030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150885030C>T , CM000668.2:g.150885030C>T | GRCh38 |
| NC_000006.11:g.151206166C>T , CM000668.1:g.151206166C>T | GRCh37 |
| NC_000006.10:g.151247859C>T | NCBI36 |
| NG_029185.1:g.24352C>T | |
| NG_029185.2:g.24352C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367321.8:c.543-604C>T MANE Select | ENSP00000356290.3:n.543-604C>T | |
| ENST00000367307.8:c.543-604C>T | ENSP00000356276.4:n.543-604C>T | |
| ENST00000367308.8:c.422-604C>T | ||
| ENST00000367321.7:c.543-604C>T | ENSP00000356290.3:n.543-604C>T | |
| ENST00000423867.2:c.213-604C>T | ENSP00000400776.1:n.213-604C>T | |
| ENST00000441122.5:c.213-604C>T | ENSP00000407070.2:n.213-604C>T | |
| ENST00000611279.4:c.543-604C>T | ENSP00000478253.1:n.543-604C>T | |
| ENST00000618312.4:c.345-604C>T | ENSP00000479539.1:n.345-604C>T | |
| NM_001242767.1:c.543-604C>T | NP_001229696.1:n.543-604C>T | |
| NM_001242768.1:c.345-604C>T | NP_001229697.1:n.345-604C>T | |
| NM_001242769.1:c.543-604C>T | NP_001229698.1:n.543-604C>T | |
| NM_015440.4:c.543-604C>T | NP_056255.2:n.543-604C>T | |
| XM_005266907.3:c.543-604C>T | XP_005266964.1:n.543-604C>T | |
| XM_005266910.3:c.543-604C>T | XP_005266967.1:n.543-604C>T | |
| XM_005266911.3:c.543-604C>T | XP_005266968.1:n.543-604C>T | |
| XM_011535729.1:c.543-604C>T | XP_011534031.1:n.543-604C>T | |
| XM_011535730.1:c.345-604C>T | XP_011534032.1:n.345-604C>T | |
| XM_011535731.1:c.345-604C>T | XP_011534033.1:n.345-604C>T | |
| XM_011535732.1:c.213-604C>T | XP_011534034.1:n.213-604C>T | |
| XM_011535733.1:c.213-604C>T | XP_011534035.1:n.213-604C>T | |
| XM_011535734.1:c.213-604C>T | XP_011534036.1:n.213-604C>T | |
| XM_011535735.1:c.543-604C>T | XP_011534037.1:n.543-604C>T | |
| XM_011535736.1:c.543-604C>T | XP_011534038.1:n.543-604C>T | |
| XM_011535737.1:c.543-604C>T | XP_011534039.1:n.543-604C>T | |
| XM_011535738.1:c.543-604C>T | XP_011534040.1:n.543-604C>T | |
| NM_001350486.1:c.345-604C>T | NP_001337415.1:n.345-604C>T | |
| NM_001350487.1:c.213-604C>T | NP_001337416.1:n.213-604C>T | |
| NM_001350488.1:c.543-604C>T | NP_001337417.1:n.543-604C>T | |
| NM_001350489.1:c.543-604C>T | NP_001337418.1:n.543-604C>T | |
| NM_001350491.1:c.213-604C>T | NP_001337420.1:n.213-604C>T | |
| NM_001350492.1:c.213-604C>T | NP_001337421.1:n.213-604C>T | |
| NM_001350493.1:c.213-604C>T | NP_001337422.1:n.213-604C>T | |
| NR_146719.1:n.687-604C>T | ||
| NR_146720.1:n.1452-604C>T | ||
| XM_005266907.5:c.543-604C>T | XP_005266964.1:n.543-604C>T | |
| XM_005266911.5:c.543-604C>T | XP_005266968.1:n.543-604C>T | |
| XM_011535729.3:c.543-604C>T | XP_011534031.1:n.543-604C>T | |
| XM_011535730.2:c.345-604C>T | XP_011534032.1:n.345-604C>T | |
| XM_011535731.2:c.345-604C>T | XP_011534033.1:n.345-604C>T | |
| XM_011535732.2:c.213-604C>T | XP_011534034.1:n.213-604C>T | |
| XM_011535733.2:c.213-604C>T | XP_011534035.1:n.213-604C>T | |
| XM_011535734.2:c.213-604C>T | XP_011534036.1:n.213-604C>T | |
| XM_011535737.3:c.543-604C>T | XP_011534039.1:n.543-604C>T | |
| XM_011535738.3:c.543-604C>T | XP_011534040.1:n.543-604C>T | |
| XM_017010702.2:c.543-604C>T | XP_016866191.1:n.543-604C>T | |
| XM_017010703.2:c.543-604C>T | XP_016866192.1:n.543-604C>T | |
| XM_017010705.1:c.213-604C>T | XP_016866194.1:n.213-604C>T | |
| XM_024446395.1:c.438-604C>T | XP_024302163.1:n.438-604C>T | |
| XM_024446396.1:c.543-604C>T | XP_024302164.1:n.543-604C>T | |
| XR_001743322.2:n.682-604C>T | ||
| XR_002956274.1:n.682-604C>T | ||
| NM_001242769.2:c.543-604C>T | NP_001229698.1:n.543-604C>T | |
| NM_001350488.2:c.543-604C>T | NP_001337417.1:n.543-604C>T | |
| NM_001350489.2:c.543-604C>T | NP_001337418.1:n.543-604C>T | |
| NM_001350491.2:c.213-604C>T | NP_001337420.1:n.213-604C>T | |
| NM_001242767.2:c.543-604C>T | NP_001229696.1:n.543-604C>T | |
| NM_001242768.2:c.345-604C>T | NP_001229697.1:n.345-604C>T | |
| NM_001242769.3:c.543-604C>T | NP_001229698.1:n.543-604C>T | |
| NM_001350487.2:c.213-604C>T | NP_001337416.1:n.213-604C>T | |
| NM_001350488.3:c.543-604C>T | NP_001337417.1:n.543-604C>T | |
| NM_001350489.3:c.543-604C>T | NP_001337418.1:n.543-604C>T | |
| NM_001350491.3:c.213-604C>T | NP_001337420.1:n.213-604C>T | |
| NM_001350492.2:c.213-604C>T | NP_001337421.1:n.213-604C>T | |
| NM_015440.5:c.543-604C>T MANE Select | NP_056255.2:n.543-604C>T | |
| NR_146719.2:n.664-604C>T | ||
| NR_146720.2:n.1413-604C>T |