Linked Data
dbSNP Id:
rs12525353
gnomAD v2:
6-151300032-C-A
gnomAD v3:
6-150978896-C-A
gnomAD v4:
6-150978896-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150978896C>A , CM000668.2:g.150978896C>A | GRCh38 |
| NC_000006.11:g.151300032C>A , CM000668.1:g.151300032C>A | GRCh37 |
| NC_000006.10:g.151341725C>A | NCBI36 |
| NG_029185.1:g.118218C>A | |
| NG_029185.2:g.118218C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367321.8:c.2125+6838C>A MANE Select | ENSP00000356290.3:n.2125+6838C>A | |
| ENST00000367321.7:c.2125+6838C>A | ENSP00000356290.3:n.2125+6838C>A | |
| ENST00000478643.1:n.112-6143C>A | ||
| ENST00000611279.4:c.2128+6838C>A | ENSP00000478253.1:n.2128+6838C>A | |
| ENST00000618312.4:c.1930+6838C>A | ENSP00000479539.1:n.1930+6838C>A | |
| NM_001242767.1:c.2128+6838C>A | NP_001229696.1:n.2128+6838C>A | |
| NM_001242768.1:c.1930+6838C>A | NP_001229697.1:n.1930+6838C>A | |
| NM_015440.4:c.2125+6838C>A | NP_056255.2:n.2125+6838C>A | |
| XM_005266907.3:c.2125+6838C>A | XP_005266964.1:n.2125+6838C>A | |
| XM_005266910.3:c.2128+6838C>A | XP_005266967.1:n.2128+6838C>A | |
| XM_011535729.1:c.2128+6838C>A | XP_011534031.1:n.2128+6838C>A | |
| XM_011535730.1:c.1930+6838C>A | XP_011534032.1:n.1930+6838C>A | |
| XM_011535731.1:c.1927+6838C>A | XP_011534033.1:n.1927+6838C>A | |
| XM_011535732.1:c.1798+6838C>A | XP_011534034.1:n.1798+6838C>A | |
| XM_011535733.1:c.1798+6838C>A | XP_011534035.1:n.1798+6838C>A | |
| XM_011535734.1:c.1795+6838C>A | XP_011534036.1:n.1795+6838C>A | |
| XM_011535735.1:c.2129-6154C>A | XP_011534037.1:n.2129-6154C>A | |
| XM_011535736.1:c.2128+6838C>A | XP_011534038.1:n.2128+6838C>A | |
| XM_011535737.1:c.2129-6143C>A | XP_011534039.1:n.2129-6143C>A | |
| XM_011535738.1:c.2129-4938C>A | XP_011534040.1:n.2129-4938C>A | |
| NM_001350486.1:c.1927+6838C>A | NP_001337415.1:n.1927+6838C>A | |
| NM_001350487.1:c.1795+6838C>A | NP_001337416.1:n.1795+6838C>A | |
| NM_001350492.1:c.1798+6838C>A | NP_001337421.1:n.1798+6838C>A | |
| NM_001350493.1:c.1798+6838C>A | NP_001337422.1:n.1798+6838C>A | |
| NR_146719.1:n.2269+6838C>A | ||
| NR_146720.1:n.3035-6154C>A | ||
| XM_005266907.5:c.2125+6838C>A | XP_005266964.1:n.2125+6838C>A | |
| XM_011535729.3:c.2128+6838C>A | XP_011534031.1:n.2128+6838C>A | |
| XM_011535730.2:c.1930+6838C>A | XP_011534032.1:n.1930+6838C>A | |
| XM_011535731.2:c.1927+6838C>A | XP_011534033.1:n.1927+6838C>A | |
| XM_011535732.2:c.1798+6838C>A | XP_011534034.1:n.1798+6838C>A | |
| XM_011535733.2:c.1798+6838C>A | XP_011534035.1:n.1798+6838C>A | |
| XM_011535734.2:c.1795+6838C>A | XP_011534036.1:n.1795+6838C>A | |
| XM_011535737.3:c.2129-6143C>A | XP_011534039.1:n.2129-6143C>A | |
| XM_011535738.3:c.2129-4938C>A | XP_011534040.1:n.2129-4938C>A | |
| XM_017010702.2:c.2128+6838C>A | XP_016866191.1:n.2128+6838C>A | |
| XM_017010703.2:c.2128+6838C>A | XP_016866192.1:n.2128+6838C>A | |
| XM_017010705.1:c.1795+6838C>A | XP_016866194.1:n.1795+6838C>A | |
| XM_024446395.1:c.2020+6838C>A | XP_024302163.1:n.2020+6838C>A | |
| XR_001743322.2:n.2268-6154C>A | ||
| XR_002956274.1:n.2267+6838C>A | ||
| NM_001242767.2:c.2128+6838C>A | NP_001229696.1:n.2128+6838C>A | |
| NM_001242768.2:c.1930+6838C>A | NP_001229697.1:n.1930+6838C>A | |
| NM_001350487.2:c.1795+6838C>A | NP_001337416.1:n.1795+6838C>A | |
| NM_001350492.2:c.1798+6838C>A | NP_001337421.1:n.1798+6838C>A | |
| NM_015440.5:c.2125+6838C>A MANE Select | NP_056255.2:n.2125+6838C>A | |
| NR_146719.2:n.2246+6838C>A | ||
| NR_146720.2:n.2996-6154C>A |