Linked Data
ClinVar Variation Id:
2142550
ClinVar RCV Id:
RCV003051038
dbSNP Id:
rs1161550084
gnomAD v2:
2-172291699-A-G
gnomAD v3:
2-171435189-A-G
gnomAD v4:
2-171435189-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171435189A>G , CM000664.2:g.171435189A>G | GRCh38 |
| NC_000002.11:g.172291699A>G , CM000664.1:g.172291699A>G | GRCh37 |
| NC_000002.10:g.171999945A>G | NCBI36 |
| NG_013038.1:g.5939A>G | |
| NG_013038.2:g.5939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375255.8:c.230+3A>G MANE Select | ENSP00000364404.3:n.230+3A>G | |
| ENST00000375255.7:c.230+3A>G | ENSP00000364404.3:n.230+3A>G | |
| ENST00000436317.1:c.144+3A>G | ||
| ENST00000468592.5:n.158+3A>G | ||
| ENST00000490217.5:n.400+3A>G | ||
| ENST00000495925.5:n.47+486A>G | ||
| ENST00000539783.5:c.230+3A>G | ENSP00000442238.1:n.230+3A>G | |
| NM_001164821.1:c.230+3A>G | NP_001158293.1:n.230+3A>G | |
| NM_025000.3:c.230+3A>G | NP_079276.2:n.230+3A>G | |
| NR_028482.1:n.557+3A>G | ||
| XM_006712766.2:c.230+3A>G | XP_006712829.1:n.230+3A>G | |
| XM_006712767.1:c.-32+3A>G | XP_006712830.1:n.-32+3A>G | |
| XM_006712768.1:c.-32+3A>G | XP_006712831.1:n.-32+3A>G | |
| XM_006712772.2:c.230+3A>G | XP_006712835.1:n.230+3A>G | |
| XM_011511881.1:c.230+3A>G | XP_011510183.1:n.230+3A>G | |
| XM_011511882.1:c.230+3A>G | XP_011510184.1:n.230+3A>G | |
| XM_011511883.1:c.230+3A>G | XP_011510185.1:n.230+3A>G | |
| XM_011511884.1:c.230+3A>G | XP_011510186.1:n.230+3A>G | |
| XM_011511885.1:c.230+3A>G | XP_011510187.1:n.230+3A>G | |
| XR_427113.2:n.552+3A>G | ||
| XR_923029.1:n.552+3A>G | ||
| XR_923030.1:n.552+3A>G | ||
| XM_017004995.1:c.230+3A>G | XP_016860484.1:n.230+3A>G | |
| XM_017004996.1:c.230+3A>G | XP_016860485.1:n.230+3A>G | |
| XM_017004997.1:c.230+3A>G | XP_016860486.1:n.230+3A>G | |
| XM_017004998.1:c.-801+3A>G | XP_016860487.1:n.-801+3A>G | |
| XM_017004999.1:c.230+3A>G | XP_016860488.1:n.230+3A>G | |
| XM_017005000.1:c.230+3A>G | XP_016860489.1:n.230+3A>G | |
| XM_017005001.2:c.230+3A>G | XP_016860490.1:n.230+3A>G | |
| XM_017005002.1:c.-567+3A>G | XP_016860491.1:n.-567+3A>G | |
| XR_001738961.1:n.552+3A>G | ||
| NM_025000.4:c.230+3A>G MANE Select | NP_079276.2:n.230+3A>G | |
| NR_028482.2:n.582+3A>G | ||
| NM_001164821.2:c.230+3A>G | NP_001158293.1:n.230+3A>G |