Linked Data
ClinVar Variation Id:
357985
dbSNP Id:
rs886061759
gnomAD v2:
6-76458963-G-C
gnomAD v3:
6-75749246-G-C
gnomAD v4:
6-75749246-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75749246G>C , CM000668.2:g.75749246G>C | GRCh38 |
| NC_000006.11:g.76458963G>C , CM000668.1:g.76458963G>C | GRCh37 |
| NC_000006.10:g.76515683G>C | NCBI36 |
| NG_009934.1:g.5055G>C | |
| NG_009934.2:g.5054G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.-225G>C | ENSP00000358992.1:n.-225G>C | |
| ENST00000369977.8:c.-225G>C MANE Select | ENSP00000358994.3:n.-225G>C | |
| ENST00000369985.9:c.-225G>C | ENSP00000359002.3:n.-225G>C | |
| ENST00000627432.3:c.-225G>C | ENSP00000487348.2:n.-225G>C | |
| ENST00000653917.1:c.-225G>C | ENSP00000499623.1:n.-225G>C | |
| ENST00000662184.1:c.-225G>C | ENSP00000499732.1:n.-225G>C | |
| ENST00000662603.1:c.-343G>C | ENSP00000499324.1:n.-343G>C | |
| ENST00000663400.1:c.-225G>C | ENSP00000499736.1:n.-225G>C | |
| ENST00000664209.1:c.-315G>C | ENSP00000499768.1:n.-315G>C | |
| ENST00000664640.1:c.-225G>C | ENSP00000499278.1:n.-225G>C | |
| ENST00000671923.1:c.-225G>C | ENSP00000500835.1:n.-225G>C | |
| ENST00000369981.7:c.-225G>C | ENSP00000358998.4:n.-225G>C | |
| ENST00000369985.8:c.-225G>C | ENSP00000359002.3:n.-225G>C | |
| NM_001300899.1:c.-225G>C | NP_001287828.1:n.-225G>C | |
| NM_004999.3:c.-225G>C | NP_004990.3:n.-225G>C | |
| XM_005248719.2:c.-225G>C | XP_005248776.1:n.-225G>C | |
| XM_005248720.2:c.-225G>C | XP_005248777.1:n.-225G>C | |
| XM_005248721.2:c.-225G>C | XP_005248778.1:n.-225G>C | |
| XM_005248722.2:c.-225G>C | XP_005248779.1:n.-225G>C | |
| XM_005248724.2:c.-225G>C | XP_005248781.1:n.-225G>C | |
| XM_005248726.2:c.-225G>C | XP_005248783.1:n.-225G>C | |
| XM_005248719.4:c.-225G>C | XP_005248776.1:n.-225G>C | |
| XM_005248720.4:c.-225G>C | XP_005248777.1:n.-225G>C | |
| XM_005248721.4:c.-225G>C | XP_005248778.1:n.-225G>C | |
| XM_005248722.4:c.-225G>C | XP_005248779.1:n.-225G>C | |
| XM_005248724.4:c.-225G>C | XP_005248781.1:n.-225G>C | |
| XM_005248726.4:c.-225G>C | XP_005248783.1:n.-225G>C | |
| XM_017010899.2:c.-225G>C | XP_016866388.1:n.-225G>C | |
| XM_024446448.1:c.-225G>C | XP_024302216.1:n.-225G>C | |
| NM_004999.4:c.-225G>C MANE Select | NP_004990.3:n.-225G>C | |
| NM_001300899.2:c.-225G>C | NP_001287828.1:n.-225G>C | |
| NM_001368136.1:c.-225G>C | NP_001355065.1:n.-225G>C | |
| NM_001368137.1:c.-225G>C | NP_001355066.1:n.-225G>C | |
| NM_001368138.1:c.-225G>C | NP_001355067.1:n.-225G>C | |
| NM_001368139.1:c.-343G>C | NP_001355068.1:n.-343G>C | |
| NM_001368140.1:c.-225G>C | NP_001355069.1:n.-225G>C | |
| NM_001368865.1:c.-225G>C | NP_001355794.1:n.-225G>C | |
| NM_001368866.1:c.-225G>C | NP_001355795.1:n.-225G>C | |
| NR_160538.1:n.8G>C | ||
| NR_160539.1:n.8G>C |