Linked Data
dbSNP Id:
rs372834955
ExAC:
6:162864332 G / C
gnomAD v3:
6-162443300-G-C
gnomAD v4:
6-162443300-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.162443300G>C , CM000668.2:g.162443300G>C | GRCh38 |
| NC_000006.11:g.162864332G>C , CM000668.1:g.162864332G>C | GRCh37 |
| NC_000006.10:g.162784322G>C | NCBI36 |
| NG_008289.1:g.289503C>G | |
| NG_008289.2:g.289503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.171+10C>G | ENSP00000343589.4:n.171+10C>G | |
| ENST00000366894.6:c.171+10C>G | ENSP00000355860.2:n.171+10C>G | |
| ENST00000366898.6:c.171+10C>G MANE Select | ENSP00000355865.1:n.171+10C>G | |
| ENST00000673871.1:c.166+10C>G | ||
| ENST00000674232.1:n.189+10C>G | ||
| ENST00000674259.1:n.228+10C>G | ||
| ENST00000674493.1:n.188+10C>G | ||
| ENST00000674501.1:n.278+10C>G | ||
| ENST00000338468.7:c.-281+10C>G | ENSP00000343589.3:n.-281+10C>G | |
| ENST00000366892.5:c.171+10C>G | ENSP00000355858.1:n.171+10C>G | |
| ENST00000366894.5:c.-162+10C>G | ENSP00000355860.1:n.-162+10C>G | |
| ENST00000366896.5:c.171+10C>G | ENSP00000355862.1:n.171+10C>G | |
| ENST00000366897.5:c.171+10C>G | ENSP00000355863.1:n.171+10C>G | |
| ENST00000366898.5:c.171+10C>G | ENSP00000355865.1:n.171+10C>G | |
| ENST00000479615.5:c.-66-180535C>G | ENSP00000434414.1:n.-66-180535C>G | |
| NM_004562.2:c.171+10C>G | NP_004553.2:n.171+10C>G | |
| NM_013987.2:c.171+10C>G | NP_054642.2:n.171+10C>G | |
| NM_013988.2:c.171+10C>G | NP_054643.2:n.171+10C>G | |
| XM_011535863.1:c.171+10C>G | XP_011534165.1:n.171+10C>G | |
| XM_011535864.1:c.171+10C>G | XP_011534166.1:n.171+10C>G | |
| XM_011535865.1:c.171+10C>G | XP_011534167.1:n.171+10C>G | |
| XM_011535866.1:c.171+10C>G | XP_011534168.1:n.171+10C>G | |
| XM_011535867.1:c.171+10C>G | XP_011534169.1:n.171+10C>G | |
| XM_017010908.1:c.285+10C>G | XP_016866397.1:n.285+10C>G | |
| XM_017010909.2:c.-66-180535C>G | XP_016866398.1:n.-66-180535C>G | |
| XM_024446449.1:c.-66-180535C>G | XP_024302217.1:n.-66-180535C>G | |
| XR_001743443.2:n.277+10C>G | ||
| NM_004562.3:c.171+10C>G MANE Select | NP_004553.2:n.171+10C>G | |
| NM_013987.3:c.171+10C>G | NP_054642.2:n.171+10C>G | |
| NM_013988.3:c.171+10C>G | NP_054643.2:n.171+10C>G |