Linked Data
dbSNP Id:
rs370996248
ExAC:
6:31237733 C / G
gnomAD v2:
6-31237733-C-G
gnomAD v3:
6-31269956-C-G
gnomAD v4:
6-31269956-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269956C>G , CM000668.2:g.31269956C>G | GRCh38 |
| NC_000006.11:g.31237733C>G , CM000668.1:g.31237733C>G | GRCh37 |
| NC_000006.10:g.31345712C>G | NCBI36 |
| NG_029422.2:g.7176G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1015+10G>C MANE Select | ENSP00000365402.5:n.1015+10G>C | |
| ENST00000376228.9:c.1015+10G>C | ENSP00000365402.5:n.1015+10G>C | |
| ENST00000376237.8:c.*602+10G>C | ENSP00000365412.4:n.*602+10G>C | |
| ENST00000383329.7:c.1015+10G>C | ENSP00000372819.3:n.1015+10G>C | |
| ENST00000470363.5:n.343G>C | ||
| ENST00000487245.5:n.1374+10G>C | ||
| NM_002117.5:c.1015+10G>C | NP_002108.4:n.1015+10G>C | |
| NM_002117.6:c.1015+10G>C MANE Select | NP_002108.4:n.1015+10G>C |