Linked Data
ClinVar Variation Id:
372908
ClinVar RCV Id:
RCV000413920
dbSNP Id:
rs1057518067
gnomAD v3:
5-148125722-G-C
gnomAD v4:
5-148125722-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148125722G>C , CM000667.2:g.148125722G>C | GRCh38 |
| NC_000005.9:g.147505285G>C , CM000667.1:g.147505285G>C | GRCh37 |
| NC_000005.8:g.147485478G>C | NCBI36 |
| NG_009633.1:g.66751G>C , LRG_110:g.66751G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256084.8:c.2740-1G>C MANE Select | ENSP00000256084.7:n.2740-1G>C | |
| ENST00000256084.7:c.2740-1G>C | ENSP00000256084.7:n.2740-1G>C | |
| ENST00000359874.7:c.2830-1G>C | ENSP00000352936.3:n.2830-1G>C | |
| NM_001127698.1:c.2830-1G>C | NP_001121170.1:n.2830-1G>C | |
| NM_006846.3:c.2740-1G>C , LRG_110t1:c.2740-1G>C | NP_006837.2:n.2740-1G>C | |
| XM_011537550.1:c.2773-1G>C | XP_011535852.1:n.2773-1G>C | |
| XM_011537551.1:c.2746-1G>C | XP_011535853.1:n.2746-1G>C | |
| XM_011537551.2:c.2746-1G>C | XP_011535853.1:n.2746-1G>C | |
| NM_001127698.2:c.2830-1G>C | NP_001121170.1:n.2830-1G>C | |
| NM_006846.4:c.2740-1G>C MANE Select | NP_006837.2:n.2740-1G>C |