Linked Data
ClinVar Variation Id:
5447
dbSNP Id:
rs113993961
ExAC:
8:30999196 G / C
gnomAD v2:
8-30999196-G-C
gnomAD v3:
8-31141680-G-C
gnomAD v4:
8-31141680-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31141680G>C , CM000670.2:g.31141680G>C | GRCh38 |
| NC_000008.10:g.30999196G>C , CM000670.1:g.30999196G>C | GRCh37 |
| NC_000008.9:g.31118738G>C | NCBI36 |
| NG_008870.1:g.113419G>C , LRG_524:g.113419G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.3139-1G>C MANE Select | ENSP00000298139.5:n.3139-1G>C | |
| ENST00000650667.1:c.*2753-1G>C | ENSP00000498593.1:n.*2753-1G>C | |
| ENST00000298139.5:c.3139-1G>C | ENSP00000298139.5:n.3139-1G>C | |
| ENST00000521620.5:n.1772-1G>C | ||
| NM_000553.4:c.3139-1G>C , LRG_524t1:c.3139-1G>C | NP_000544.2:n.3139-1G>C | |
| XM_011544639.1:c.3058-1G>C | XP_011542941.1:n.3058-1G>C | |
| XM_011544640.1:c.1540-1G>C | XP_011542942.1:n.1540-1G>C | |
| XR_949470.1:n.3412-1G>C | ||
| XR_949471.1:n.3412-1G>C | ||
| XR_949472.1:n.3412-1G>C | ||
| NM_000553.5:c.3139-1G>C | NP_000544.2:n.3139-1G>C | |
| XM_011544639.3:c.3058-1G>C | XP_011542941.1:n.3058-1G>C | |
| XM_024447265.1:c.2929-1G>C | XP_024303033.1:n.2929-1G>C | |
| XR_949470.3:n.3440-1G>C | ||
| XR_949471.3:n.3440-1G>C | ||
| XR_949472.3:n.3440-1G>C | ||
| NM_000553.6:c.3139-1G>C MANE Select | NP_000544.2:n.3139-1G>C |