Linked Data
ClinVar Variation Id:
716071
ClinVar RCV Id:
RCV000888647
dbSNP Id:
rs41288961
ExAC:
6:136943976 A / G
gnomAD v2:
6-136943976-A-G
gnomAD v3:
6-136622838-A-G
gnomAD v4:
6-136622838-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136622838A>G , CM000668.2:g.136622838A>G | GRCh38 |
| NC_000006.11:g.136943976A>G , CM000668.1:g.136943976A>G | GRCh37 |
| NC_000006.10:g.136985669A>G | NCBI36 |
| NG_011965.1:g.174681T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698928.1:c.2477+10T>C | ENSP00000514039.1:n.2477+10T>C | |
| ENST00000359015.5:c.2150+10T>C MANE Select | ENSP00000351908.4:n.2150+10T>C | |
| ENST00000359015.4:c.2150+10T>C | ENSP00000351908.4:n.2150+10T>C | |
| NM_005923.3:c.2150+10T>C | NP_005914.1:n.2150+10T>C | |
| XM_011535837.1:c.2042+10T>C | XP_011534139.1:n.2042+10T>C | |
| XM_011535838.1:c.2150+10T>C | XP_011534140.1:n.2150+10T>C | |
| XM_011535839.1:c.2150+10T>C | XP_011534141.1:n.2150+10T>C | |
| XM_011535839.3:c.2477+10T>C | XP_011534141.2:n.2477+10T>C | |
| XM_017010870.1:c.2477+10T>C | XP_016866359.1:n.2477+10T>C | |
| XM_017010871.1:c.2477+10T>C | XP_016866360.1:n.2477+10T>C | |
| XM_017010872.1:c.2477+10T>C | XP_016866361.1:n.2477+10T>C | |
| XM_017010873.1:c.2477+10T>C | XP_016866362.1:n.2477+10T>C | |
| XM_017010874.1:c.2369+10T>C | XP_016866363.1:n.2369+10T>C | |
| XM_017010875.1:c.2369+10T>C | XP_016866364.1:n.2369+10T>C | |
| XM_017010876.1:c.1568+10T>C | XP_016866365.1:n.1568+10T>C | |
| XM_017010877.1:c.1568+10T>C | XP_016866366.1:n.1568+10T>C | |
| NM_005923.4:c.2150+10T>C MANE Select | NP_005914.1:n.2150+10T>C |