Linked Data
ClinVar Variation Id:
3030223
ClinVar RCV Id:
RCV004531881
dbSNP Id:
rs1484129630
gnomAD v2:
4-1807213-G-C
gnomAD v3:
4-1805486-G-C
gnomAD v4:
4-1805486-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1805486G>C , CM000666.2:g.1805486G>C | GRCh38 |
| NC_000004.11:g.1807213G>C , CM000666.1:g.1807213G>C | GRCh37 |
| NC_000004.10:g.1777011G>C | NCBI36 |
| NG_012632.1:g.17175G>C , LRG_1021:g.17175G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1540+10G>C | ENSP00000339824.4:n.1540+10G>C | |
| ENST00000260795.8:c.*590+10G>C | ENSP00000260795.3:n.*590+10G>C | |
| ENST00000352904.6:c.1198+10G>C | ENSP00000231803.1:n.1198+10G>C | |
| ENST00000412135.7:c.1522+10G>C | ENSP00000412903.3:n.1522+10G>C | |
| ENST00000440486.8:c.1534+10G>C MANE Select | ENSP00000414914.2:n.1534+10G>C | |
| ENST00000481110.7:c.1537+10G>C | ENSP00000420533.2:n.1537+10G>C | |
| ENST00000260795.6:c.1534+10G>C | ENSP00000260795.2:n.1534+10G>C | |
| ENST00000340107.8:c.1540+10G>C | ENSP00000339824.4:n.1540+10G>C | |
| ENST00000352904.5:c.1198+10G>C | ENSP00000231803.1:n.1198+10G>C | |
| ENST00000412135.6:c.1198+10G>C | ENSP00000412903.2:n.1198+10G>C | |
| ENST00000440486.6:c.1534+10G>C | ENSP00000414914.2:n.1534+10G>C | |
| ENST00000469068.1:n.600+10G>C | ||
| ENST00000481110.6:c.1537+10G>C | ENSP00000420533.2:n.1537+10G>C | |
| ENST00000613647.4:c.*590+10G>C | ENSP00000479472.1:n.*590+10G>C | |
| NM_000142.4:c.1534+10G>C , LRG_1021t1:c.1534+10G>C | NP_000133.1:n.1534+10G>C | |
| NM_001163213.1:c.1540+10G>C , LRG_1021t2:c.1540+10G>C | NP_001156685.1:n.1540+10G>C | |
| NM_022965.3:c.1198+10G>C | NP_075254.1:n.1198+10G>C | |
| XM_006713868.1:c.1546+10G>C | XP_006713931.1:n.1546+10G>C | |
| XM_006713869.1:c.1546+10G>C | XP_006713932.1:n.1546+10G>C | |
| XM_006713870.1:c.1543+10G>C | XP_006713933.1:n.1543+10G>C | |
| XM_006713871.1:c.1540+10G>C | XP_006713934.1:n.1540+10G>C | |
| XM_006713872.1:c.1537+10G>C | XP_006713935.1:n.1537+10G>C | |
| XM_006713873.1:c.1534+10G>C | XP_006713936.1:n.1534+10G>C | |
| XM_011513420.1:c.1540+10G>C | XP_011511722.1:n.1540+10G>C | |
| XM_011513422.1:c.1537+10G>C | XP_011511724.1:n.1537+10G>C | |
| NM_001354809.1:c.1537+10G>C | NP_001341738.1:n.1537+10G>C | |
| NM_001354810.1:c.1537+10G>C | NP_001341739.1:n.1537+10G>C | |
| NR_148971.1:n.1941+10G>C | ||
| NM_001354809.2:c.1537+10G>C | NP_001341738.1:n.1537+10G>C | |
| NM_001354810.2:c.1537+10G>C | NP_001341739.1:n.1537+10G>C | |
| NR_148971.2:n.1960+10G>C | ||
| NM_000142.5:c.1534+10G>C MANE Select | NP_000133.1:n.1534+10G>C | |
| NM_001163213.2:c.1540+10G>C | NP_001156685.1:n.1540+10G>C | |
| NM_022965.4:c.1198+10G>C | NP_075254.1:n.1198+10G>C |