Linked Data
dbSNP Id:
rs2239518
gnomAD v2:
6-30865725-C-T
gnomAD v3:
6-30897948-C-T
gnomAD v4:
6-30897948-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30897948C>T , CM000668.2:g.30897948C>T | GRCh38 |
| NC_000006.11:g.30865725C>T , CM000668.1:g.30865725C>T | GRCh37 |
| NC_000006.10:g.30973704C>T | NCBI36 |
| NG_029066.1:g.18865C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376568.8:c.2217-125C>T MANE Select | ENSP00000365752.3:n.2217-125C>T | |
| ENST00000324771.12:c.2217-125C>T | ENSP00000318217.8:n.2217-125C>T | |
| ENST00000376567.6:c.2106-125C>T | ENSP00000365751.2:n.2106-125C>T | |
| ENST00000376568.7:c.2217-125C>T | ENSP00000365752.3:n.2217-125C>T | |
| ENST00000376569.7:c.2106-125C>T | ENSP00000365753.3:n.2106-125C>T | |
| ENST00000376570.8:c.2106-125C>T | ENSP00000365754.4:n.2106-125C>T | |
| ENST00000417521.5:c.1413-125C>T | ENSP00000398682.1:n.1413-125C>T | |
| ENST00000418800.6:c.2106-125C>T | ENSP00000407699.2:n.2106-125C>T | |
| ENST00000446312.5:c.1779-125C>T | ENSP00000405998.2:n.1779-125C>T | |
| ENST00000452441.5:c.2217-125C>T | ENSP00000405039.1:n.2217-125C>T | |
| ENST00000454612.6:c.2106-125C>T | ENSP00000406091.2:n.2106-125C>T | |
| ENST00000482873.6:c.*1274-125C>T | ENSP00000421978.1:n.*1274-125C>T | |
| ENST00000484556.1:c.287-125C>T | ||
| ENST00000508312.5:c.2160-125C>T | ENSP00000422442.1:n.2160-125C>T | |
| ENST00000513240.5:c.2235-125C>T | ENSP00000427552.1:n.2235-125C>T | |
| NM_001202521.1:c.*334-125C>T | NP_001189450.1:n.*334-125C>T | |
| NM_001202522.1:c.1779-125C>T | NP_001189451.1:n.1779-125C>T | |
| NM_001202523.1:c.2160-125C>T | NP_001189452.1:n.2160-125C>T | |
| NM_001297652.1:c.2106-125C>T | NP_001284581.1:n.2106-125C>T | |
| NM_001297653.1:c.2106-125C>T | NP_001284582.1:n.2106-125C>T | |
| NM_001297654.1:c.2217-125C>T | NP_001284583.1:n.2217-125C>T | |
| NM_001954.4:c.2106-125C>T | NP_001945.3:n.2106-125C>T | |
| NM_013993.2:c.2217-125C>T | NP_054699.2:n.2217-125C>T | |
| NM_013994.2:c.2235-125C>T | NP_054700.2:n.2235-125C>T | |
| XM_006715185.1:c.2271-125C>T | XP_006715248.1:n.2271-125C>T | |
| XM_011514882.1:c.2289-125C>T | XP_011513184.1:n.2289-125C>T | |
| XM_011514883.1:c.2235-125C>T | XP_011513185.1:n.2235-125C>T | |
| XM_011514884.1:c.2235-125C>T | XP_011513186.1:n.2235-125C>T | |
| XM_011514885.1:c.2235-125C>T | XP_011513187.1:n.2235-125C>T | |
| XM_011514886.1:c.2235-125C>T | XP_011513188.1:n.2235-125C>T | |
| XM_011514887.1:c.2235-125C>T | XP_011513189.1:n.2235-125C>T | |
| XM_011514888.1:c.2178-125C>T | XP_011513190.1:n.2178-125C>T | |
| XM_006715185.2:c.2271-125C>T | XP_006715248.1:n.2271-125C>T | |
| XM_011514882.2:c.2289-125C>T | XP_011513184.1:n.2289-125C>T | |
| XM_011514883.2:c.2235-125C>T | XP_011513185.1:n.2235-125C>T | |
| XM_011514885.2:c.2235-125C>T | XP_011513187.1:n.2235-125C>T | |
| XM_011514886.2:c.2235-125C>T | XP_011513188.1:n.2235-125C>T | |
| XM_011514887.2:c.2235-125C>T | XP_011513189.1:n.2235-125C>T | |
| XM_011514888.3:c.2178-125C>T | XP_011513190.1:n.2178-125C>T | |
| XM_017011268.2:c.2235-125C>T | XP_016866757.1:n.2235-125C>T | |
| XM_017011269.2:c.2124-125C>T | XP_016866758.1:n.2124-125C>T | |
| XM_024446540.1:c.2235-125C>T | XP_024302308.1:n.2235-125C>T | |
| XM_024446541.1:c.2235-125C>T | XP_024302309.1:n.2235-125C>T | |
| XM_024446542.1:c.2235-125C>T | XP_024302310.1:n.2235-125C>T | |
| NM_001202523.3:c.2106-125C>T | NP_001189452.2:n.2106-125C>T | |
| NM_001297652.2:c.2106-125C>T | NP_001284581.1:n.2106-125C>T | |
| NM_001297653.2:c.2106-125C>T | NP_001284582.1:n.2106-125C>T | |
| NM_001297654.2:c.2217-125C>T MANE Select | NP_001284583.1:n.2217-125C>T | |
| NM_001387892.1:c.2235-125C>T | NP_001374821.1:n.2235-125C>T | |
| NM_001387893.1:c.2217-125C>T | NP_001374822.1:n.2217-125C>T | |
| NM_001387894.1:c.2217-125C>T | NP_001374823.1:n.2217-125C>T | |
| NM_001387895.1:c.2217-125C>T | NP_001374824.1:n.2217-125C>T | |
| NM_001387896.1:c.2217-125C>T | NP_001374825.1:n.2217-125C>T | |
| NM_001387897.1:c.2217-125C>T | NP_001374826.1:n.2217-125C>T | |
| NM_001387898.1:c.2217-125C>T | NP_001374827.1:n.2217-125C>T | |
| NM_001387899.1:c.2217-125C>T | NP_001374828.1:n.2217-125C>T | |
| NM_001387900.1:c.2217-125C>T | NP_001374829.1:n.2217-125C>T | |
| NM_001387901.1:c.2217-125C>T | NP_001374830.1:n.2217-125C>T | |
| NM_001387902.1:c.2217-125C>T | NP_001374831.1:n.2217-125C>T | |
| NM_001387903.1:c.2217-125C>T | NP_001374832.1:n.2217-125C>T | |
| NM_001387904.1:c.2217-125C>T | NP_001374833.1:n.2217-125C>T | |
| NM_001387905.1:c.2124-125C>T | NP_001374834.1:n.2124-125C>T | |
| NM_001387906.1:c.2124-125C>T | NP_001374835.1:n.2124-125C>T | |
| NM_001387907.1:c.2124-125C>T | NP_001374836.1:n.2124-125C>T | |
| NM_001387908.1:c.2106-125C>T | NP_001374837.1:n.2106-125C>T | |
| NM_001387909.1:c.2106-125C>T | NP_001374838.1:n.2106-125C>T | |
| NM_001387910.1:c.2106-125C>T | NP_001374839.1:n.2106-125C>T | |
| NM_001387911.1:c.2106-125C>T | NP_001374840.1:n.2106-125C>T | |
| NM_001387912.1:c.2106-125C>T | NP_001374841.1:n.2106-125C>T | |
| NM_001387913.1:c.2106-125C>T | NP_001374842.1:n.2106-125C>T | |
| NM_001387914.1:c.2106-125C>T | NP_001374843.1:n.2106-125C>T | |
| NM_001387915.1:c.2106-125C>T | NP_001374844.1:n.2106-125C>T | |
| NM_001387916.1:c.2106-125C>T | NP_001374845.1:n.2106-125C>T | |
| NM_001387917.1:c.2106-125C>T | NP_001374846.1:n.2106-125C>T | |
| NM_001387918.1:c.2106-125C>T | NP_001374847.1:n.2106-125C>T | |
| NM_001954.5:c.2106-125C>T | NP_001945.3:n.2106-125C>T | |
| NM_013993.3:c.2217-125C>T | NP_054699.2:n.2217-125C>T | |
| NM_013994.3:c.2235-125C>T | NP_054700.2:n.2235-125C>T |