Linked Data
ClinVar Variation Id:
1261773
ClinVar RCV Id:
RCV001674351
dbSNP Id:
rs2076756
gnomAD v2:
16-50756881-A-G
gnomAD v3:
16-50722970-A-G
gnomAD v4:
16-50722970-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50722970A>G , CM000678.2:g.50722970A>G | GRCh38 |
| NC_000016.9:g.50756881A>G , CM000678.1:g.50756881A>G | GRCh37 |
| NC_000016.8:g.49314382A>G | NCBI36 |
| NG_007508.1:g.30832A>G , LRG_177:g.30832A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.2382-6848A>G | ENSP00000493088.1:n.2382-6848A>G | |
| ENST00000646677.2:c.*482+265A>G | ENSP00000496533.1:n.*482+265A>G | |
| ENST00000697425.1:c.544+265A>G | ||
| ENST00000697426.1:c.432+265A>G | ||
| ENST00000697427.1:c.348+265A>G | ||
| ENST00000697428.1:n.2195+265A>G | ||
| ENST00000641284.1:c.2382-6848A>G | ENSP00000493088.1:n.2382-6848A>G | |
| ENST00000646677.1:c.*482+265A>G | ENSP00000496533.1:n.*482+265A>G | |
| ENST00000647318.2:c.2717+265A>G MANE Select | ENSP00000495993.1:n.2717+265A>G | |
| ENST00000300589.6:c.2798+265A>G | ENSP00000300589.2:n.2798+265A>G | |
| ENST00000524712.5:c.292+265A>G | ||
| ENST00000527052.5:c.264+265A>G | ||
| ENST00000529633.5:c.376+265A>G | ||
| ENST00000534057.1:c.432+265A>G | ||
| ENST00000534067.5:c.528+265A>G | ||
| NM_001293557.1:c.2717+265A>G | NP_001280486.1:n.2717+265A>G | |
| NM_022162.2:c.2798+265A>G | NP_071445.1:n.2798+265A>G | |
| XM_005256084.2:c.2717+265A>G | XP_005256141.1:n.2717+265A>G | |
| XM_006721242.2:c.2633+265A>G | XP_006721305.1:n.2633+265A>G | |
| XM_011523257.1:c.2294+265A>G | XP_011521559.1:n.2294+265A>G | |
| XM_011523258.1:c.2294+265A>G | XP_011521560.1:n.2294+265A>G | |
| XM_011523259.1:c.2132+265A>G | XP_011521561.1:n.2132+265A>G | |
| XR_429725.2:n.2639+265A>G | ||
| XR_429726.2:n.2555+265A>G | ||
| XR_933387.1:n.2835+265A>G | ||
| XM_005256084.4:c.2717+265A>G | XP_005256141.1:n.2717+265A>G | |
| XM_006721242.4:c.2633+265A>G | XP_006721305.1:n.2633+265A>G | |
| XM_011523259.2:c.2132+265A>G | XP_011521561.1:n.2132+265A>G | |
| XM_017023535.1:c.2225+265A>G | XP_016879024.1:n.2225+265A>G | |
| XM_017023536.1:c.2132+265A>G | XP_016879025.1:n.2132+265A>G | |
| XM_017023537.1:c.2132+265A>G | XP_016879026.1:n.2132+265A>G | |
| XM_017023538.1:c.2132+265A>G | XP_016879027.1:n.2132+265A>G | |
| XR_429725.3:n.2592+265A>G | ||
| XR_429726.3:n.2508+265A>G | ||
| XR_933387.2:n.2788+265A>G | ||
| NM_001293557.2:c.2717+265A>G | NP_001280486.1:n.2717+265A>G | |
| NM_001370466.1:c.2717+265A>G MANE Select | NP_001357395.1:n.2717+265A>G | |
| NM_022162.3:c.2798+265A>G | NP_071445.1:n.2798+265A>G | |
| NR_163434.1:n.2929+265A>G |