Linked Data
dbSNP Id:
rs757120520
ExAC:
6:31237245 C / T
gnomAD v2:
6-31237245-C-T
gnomAD v3:
6-31269468-C-T
gnomAD v4:
6-31269468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269468C>T , CM000668.2:g.31269468C>T | GRCh38 |
| NC_000006.11:g.31237245C>T , CM000668.1:g.31237245C>T | GRCh37 |
| NC_000006.10:g.31345224C>T | NCBI36 |
| NG_029422.2:g.7664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1048+25G>A MANE Select | ENSP00000365402.5:n.1048+25G>A | |
| ENST00000376228.9:c.1048+25G>A | ENSP00000365402.5:n.1048+25G>A | |
| ENST00000376237.8:c.*635+25G>A | ENSP00000365412.4:n.*635+25G>A | |
| ENST00000383329.7:c.1066+25G>A | ENSP00000372819.3:n.1066+25G>A | |
| ENST00000466892.5:n.199G>A | ||
| ENST00000470363.5:n.806+25G>A | ||
| ENST00000487245.5:n.1407+25G>A | ||
| NM_002117.5:c.1048+25G>A | NP_002108.4:n.1048+25G>A | |
| NM_002117.6:c.1048+25G>A MANE Select | NP_002108.4:n.1048+25G>A |