Linked Data
dbSNP Id:
rs10418356
gnomAD v2:
19-31035686-C-G
gnomAD v3:
19-30544779-C-G
gnomAD v4:
19-30544779-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.30544779C>G , CM000681.2:g.30544779C>G | GRCh38 |
| NC_000019.9:g.31035686C>G , CM000681.1:g.31035686C>G | GRCh37 |
| NC_000019.8:g.35727526C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592773.3:c.2324-3164C>G | ENSP00000467909.3:n.2324-3164C>G | |
| ENST00000706142.1:c.2324-3164C>G | ENSP00000516226.1:n.2324-3164C>G | |
| ENST00000706143.1:c.77-3164C>G | ENSP00000516227.1:n.77-3164C>G | |
| ENST00000706144.1:c.2324-3164C>G | ENSP00000516228.1:n.2324-3164C>G | |
| ENST00000706146.1:c.2324-3164C>G | ENSP00000516229.1:n.2324-3164C>G | |
| ENST00000706147.1:c.2323+9780C>G | ENSP00000516230.1:n.2323+9780C>G | |
| ENST00000706148.1:c.2324-3164C>G | ENSP00000516231.1:n.2324-3164C>G | |
| ENST00000706149.1:c.77-3164C>G | ENSP00000516232.1:n.77-3164C>G | |
| ENST00000706150.1:c.2324-3164C>G | ENSP00000516233.1:n.2324-3164C>G | |
| ENST00000355537.4:c.2324-3164C>G MANE Select | ENSP00000347730.1:n.2324-3164C>G | |
| ENST00000355537.3:c.2324-3164C>G | ENSP00000347730.1:n.2324-3164C>G | |
| ENST00000585628.5:c.2324-3164C>G | ENSP00000465771.1:n.2324-3164C>G | |
| NM_014717.1:c.2324-3164C>G | NP_055532.1:n.2324-3164C>G | |
| NM_014717.2:c.2324-3164C>G | NP_055532.1:n.2324-3164C>G | |
| XM_011527554.1:c.2411-3164C>G | XP_011525856.1:n.2411-3164C>G | |
| XM_011527555.1:c.2411-3164C>G | XP_011525857.1:n.2411-3164C>G | |
| XM_011527556.1:c.2411-3164C>G | XP_011525858.1:n.2411-3164C>G | |
| XM_011527557.1:c.2411-3164C>G | XP_011525859.1:n.2411-3164C>G | |
| XM_011527558.1:c.2411-3164C>G | XP_011525860.1:n.2411-3164C>G | |
| XM_011527559.1:c.2393-3164C>G | XP_011525861.1:n.2393-3164C>G | |
| XM_011527560.1:c.2324-3164C>G | XP_011525862.1:n.2324-3164C>G | |
| NM_001352260.1:c.2324-3164C>G | NP_001339189.1:n.2324-3164C>G | |
| XM_011527554.2:c.2411-3164C>G | XP_011525856.1:n.2411-3164C>G | |
| XM_011527555.2:c.2411-3164C>G | XP_011525857.1:n.2411-3164C>G | |
| XM_011527557.2:c.2411-3164C>G | XP_011525859.1:n.2411-3164C>G | |
| XM_011527558.2:c.2411-3164C>G | XP_011525860.1:n.2411-3164C>G | |
| XM_011527560.2:c.2324-3164C>G | XP_011525862.1:n.2324-3164C>G | |
| XM_017027527.1:c.2411-3164C>G | XP_016883016.1:n.2411-3164C>G | |
| XM_017027528.1:c.2411-3164C>G | XP_016883017.1:n.2411-3164C>G | |
| XM_017027529.1:c.2411-3164C>G | XP_016883018.1:n.2411-3164C>G | |
| XM_017027530.1:c.2411-3164C>G | XP_016883019.1:n.2411-3164C>G | |
| XM_017027531.1:c.2411-3164C>G | XP_016883020.1:n.2411-3164C>G | |
| XM_017027532.1:c.2411-3164C>G | XP_016883021.1:n.2411-3164C>G | |
| XM_017027533.1:c.2411-3164C>G | XP_016883022.1:n.2411-3164C>G | |
| XM_017027534.1:c.2411-3164C>G | XP_016883023.1:n.2411-3164C>G | |
| XM_017027535.1:c.2411-3164C>G | XP_016883024.1:n.2411-3164C>G | |
| XM_017027536.1:c.2411-3164C>G | XP_016883025.1:n.2411-3164C>G | |
| XM_017027537.1:c.2324-3164C>G | XP_016883026.1:n.2324-3164C>G | |
| XM_017027538.1:c.2411-3164C>G | XP_016883027.1:n.2411-3164C>G | |
| XM_017027539.1:c.2411-3164C>G | XP_016883028.1:n.2411-3164C>G | |
| XM_017027540.1:c.2324-3164C>G | XP_016883029.1:n.2324-3164C>G | |
| XM_017027542.1:c.2324-3164C>G | XP_016883031.1:n.2324-3164C>G | |
| XM_017027543.2:c.278-3164C>G | XP_016883032.1:n.278-3164C>G | |
| XM_024451807.1:c.2411-3164C>G | XP_024307575.1:n.2411-3164C>G | |
| NM_014717.3:c.2324-3164C>G MANE Select | NP_055532.1:n.2324-3164C>G | |
| NM_001352260.2:c.2324-3164C>G | NP_001339189.1:n.2324-3164C>G | |
| NM_001376110.1:c.2324-3164C>G | NP_001363039.1:n.2324-3164C>G | |
| NM_001376111.1:c.2324-3164C>G | NP_001363040.1:n.2324-3164C>G |