Linked Data
dbSNP Id:
rs745463871
gnomAD v2:
6-162161621-T-C
gnomAD v3:
6-161740589-T-C
gnomAD v4:
6-161740589-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161740589T>C , CM000668.2:g.161740589T>C | GRCh38 |
| NC_000006.11:g.162161621T>C , CM000668.1:g.162161621T>C | GRCh37 |
| NC_000006.10:g.162081611T>C | NCBI36 |
| NG_008289.1:g.992214A>G | |
| NG_008289.2:g.992214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.749+45183A>G | ENSP00000343589.4:n.749+45183A>G | |
| ENST00000366894.6:c.630+45183A>G | ENSP00000355860.2:n.630+45183A>G | |
| ENST00000366898.6:c.871+45183A>G MANE Select | ENSP00000355865.1:n.871+45183A>G | |
| ENST00000673871.1:c.866+45183A>G | ||
| ENST00000674006.1:n.256+45183A>G | ||
| ENST00000674436.1:n.507+45183A>G | ||
| ENST00000674501.1:n.978+45183A>G | ||
| ENST00000338468.7:c.298+45183A>G | ENSP00000343589.3:n.298+45183A>G | |
| ENST00000366892.5:c.871+45183A>G | ENSP00000355858.1:n.871+45183A>G | |
| ENST00000366894.5:c.298+45183A>G | ENSP00000355860.1:n.298+45183A>G | |
| ENST00000366896.5:c.424+45183A>G | ENSP00000355862.1:n.424+45183A>G | |
| ENST00000366897.5:c.787+45183A>G | ENSP00000355863.1:n.787+45183A>G | |
| ENST00000366898.5:c.871+45183A>G | ENSP00000355865.1:n.871+45183A>G | |
| ENST00000479615.5:c.634+45183A>G | ENSP00000434414.1:n.634+45183A>G | |
| NM_004562.2:c.871+45183A>G | NP_004553.2:n.871+45183A>G | |
| NM_013987.2:c.787+45183A>G | NP_054642.2:n.787+45183A>G | |
| NM_013988.2:c.424+45183A>G | NP_054643.2:n.424+45183A>G | |
| XM_011535863.1:c.868+45183A>G | XP_011534165.1:n.868+45183A>G | |
| XM_011535864.1:c.871+45183A>G | XP_011534166.1:n.871+45183A>G | |
| XM_011535865.1:c.871+45183A>G | XP_011534167.1:n.871+45183A>G | |
| XM_017010908.1:c.985+45183A>G | XP_016866397.1:n.985+45183A>G | |
| XM_017010909.2:c.631+45183A>G | XP_016866398.1:n.631+45183A>G | |
| XM_024446449.1:c.634+45183A>G | XP_024302217.1:n.634+45183A>G | |
| XR_001743443.2:n.977+45183A>G | ||
| NM_004562.3:c.871+45183A>G MANE Select | NP_004553.2:n.871+45183A>G | |
| NM_013987.3:c.787+45183A>G | NP_054642.2:n.787+45183A>G | |
| NM_013988.3:c.424+45183A>G | NP_054643.2:n.424+45183A>G |