Linked Data
ClinVar Variation Id:
407209
ClinVar RCV Id:
RCV000467095
dbSNP Id:
rs1060501454
gnomAD v2:
5-13781069-C-G
gnomAD v4:
5-13780960-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13780960C>G , CM000667.2:g.13780960C>G | GRCh38 |
| NC_000005.9:g.13781069C>G , CM000667.1:g.13781069C>G | GRCh37 |
| NC_000005.8:g.13834069C>G | NCBI36 |
| NG_013081.1:g.168521G>C | |
| NG_013081.2:g.168521G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8821-1G>C MANE Select | ENSP00000265104.4:n.8821-1G>C | |
| ENST00000681290.1:c.8776-1G>C | ENSP00000505288.1:n.8776-1G>C | |
| ENST00000265104.4:c.8821-1G>C | ENSP00000265104.4:n.8821-1G>C | |
| NM_001369.2:c.8821-1G>C | NP_001360.1:n.8821-1G>C | |
| XM_005248262.2:c.8776-1G>C | XP_005248319.1:n.8776-1G>C | |
| XM_011513990.1:c.8821-1G>C | XP_011512292.1:n.8821-1G>C | |
| XR_925598.1:n.9028-3605G>C | ||
| XM_005248262.3:c.8929-1G>C | XP_005248319.2:n.8929-1G>C | |
| XM_017009177.1:c.8929-1G>C | XP_016864666.1:n.8929-1G>C | |
| XM_017009178.1:c.7834-1G>C | XP_016864667.1:n.7834-1G>C | |
| XM_017009179.2:c.7834-1G>C | XP_016864668.1:n.7834-1G>C | |
| XM_017009180.1:c.8929-1G>C | XP_016864669.1:n.8929-1G>C | |
| XM_017009181.1:c.8929-1G>C | XP_016864670.1:n.8929-1G>C | |
| XM_017009182.1:c.8929-1G>C | XP_016864671.1:n.8929-1G>C | |
| XM_017009183.1:c.8929-1G>C | XP_016864672.1:n.8929-1G>C | |
| XM_017009184.1:c.8929-1G>C | XP_016864673.1:n.8929-1G>C | |
| XM_017009185.1:c.4018-1G>C | XP_016864674.1:n.4018-1G>C | |
| XM_017009186.1:c.3571-1G>C | XP_016864675.1:n.3571-1G>C | |
| XM_017009188.1:c.2908-1G>C | XP_016864677.1:n.2908-1G>C | |
| XM_024454388.1:c.7834-1G>C | XP_024310156.1:n.7834-1G>C | |
| XM_024454389.1:c.7423-1G>C | XP_024310157.1:n.7423-1G>C | |
| XR_001742034.1:n.8946-3605G>C | ||
| XR_001742035.1:n.8946-3605G>C | ||
| NM_001369.3:c.8821-1G>C MANE Select | NP_001360.1:n.8821-1G>C |