Linked Data
dbSNP Id:
rs771199357
gnomAD v2:
2-175664588-G-C
gnomAD v3:
2-174799860-G-C
gnomAD v4:
2-174799860-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174799860G>C , CM000664.2:g.174799860G>C | GRCh38 |
| NC_000002.11:g.175664588G>C , CM000664.1:g.175664588G>C | GRCh37 |
| NC_000002.10:g.175372834G>C | NCBI36 |
| NG_012642.1:g.210583C>G | |
| NG_012642.2:g.210583C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295497.13:c.*256C>G | ENSP00000295497.7:n.*256C>G | |
| ENST00000295497.12:c.*256C>G | ENSP00000295497.7:n.*256C>G | |
| ENST00000409900.9:c.*256C>G MANE Select | ENSP00000386741.4:n.*256C>G | |
| ENST00000413882.6:c.*256C>G | ENSP00000410496.2:n.*256C>G | |
| ENST00000443238.6:c.*256C>G | ENSP00000409798.2:n.*256C>G | |
| ENST00000488080.6:n.1279C>G | ||
| ENST00000650731.1:c.*256C>G | ENSP00000499146.1:n.*256C>G | |
| ENST00000650938.1:c.1022C>G | ||
| ENST00000651246.1:c.*256C>G | ENSP00000498484.1:n.*256C>G | |
| ENST00000651501.1:c.*1083C>G | ENSP00000498894.1:n.*1083C>G | |
| ENST00000651717.1:c.*912C>G | ENSP00000499124.1:n.*912C>G | |
| ENST00000652036.1:c.*256C>G | ENSP00000499139.1:n.*256C>G | |
| ENST00000295497.11:c.*256C>G | ENSP00000295497.7:n.*256C>G | |
| ENST00000409597.5:c.*256C>G | ENSP00000386469.1:n.*256C>G | |
| ENST00000409900.7:c.*256C>G | ENSP00000386741.3:n.*256C>G | |
| ENST00000488080.5:n.1487C>G | ||
| NM_001025201.3:c.*256C>G | NP_001020372.2:n.*256C>G | |
| NM_001206602.1:c.*256C>G | NP_001193531.1:n.*256C>G | |
| NM_001822.5:c.*256C>G | NP_001813.1:n.*256C>G | |
| NR_038133.1:n.1502C>G | ||
| NM_001025201.4:c.*256C>G | NP_001020372.2:n.*256C>G | |
| NM_001206602.2:c.*256C>G | NP_001193531.1:n.*256C>G | |
| NM_001371513.1:c.*256C>G | NP_001358442.1:n.*256C>G | |
| NM_001371514.1:c.*256C>G | NP_001358443.1:n.*256C>G | |
| NM_001822.7:c.*256C>G MANE Select | NP_001813.1:n.*256C>G | |
| NR_038133.2:n.1504C>G |