Linked Data
ClinVar Variation Id:
379913
ClinVar RCV Id:
RCV000440001
dbSNP Id:
rs1057520781
gnomAD v4:
X-30668120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30668120T>C , CM000685.2:g.30668120T>C | GRCh38 |
| NC_000023.10:g.30686237T>C , CM000685.1:g.30686237T>C | GRCh37 |
| NC_000023.9:g.30596158T>C | NCBI36 |
| NG_008178.1:g.19762T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692461.1:c.259+2T>C | ENSP00000509378.1:n.259+2T>C | |
| ENST00000427190.6:c.259+2T>C MANE Select | ENSP00000401720.2:n.259+2T>C | |
| ENST00000479048.6:c.152+2536T>C | ENSP00000420676.1:n.152+2536T>C | |
| ENST00000378941.4:c.259+2T>C | ENSP00000368224.3:n.259+2T>C | |
| ENST00000378943.7:c.259+2T>C | ENSP00000368226.3:n.259+2T>C | |
| ENST00000378945.7:c.259+2T>C | ENSP00000368228.3:n.259+2T>C | |
| ENST00000378946.7:c.259+2T>C | ENSP00000368229.3:n.259+2T>C | |
| ENST00000427190.5:c.259+2T>C | ENSP00000401720.2:n.259+2T>C | |
| ENST00000471362.5:c.152+2536T>C | ENSP00000417942.1:n.152+2536T>C | |
| ENST00000479048.5:c.152+2536T>C | ENSP00000420676.1:n.152+2536T>C | |
| ENST00000481024.5:c.259+2T>C | ENSP00000418873.1:n.259+2T>C | |
| ENST00000487652.5:c.79-9255T>C | ENSP00000419332.1:n.79-9255T>C | |
| NM_000167.5:c.259+2T>C | NP_000158.1:n.259+2T>C | |
| NM_001128127.2:c.259+2T>C | NP_001121599.1:n.259+2T>C | |
| NM_001205019.1:c.259+2T>C | NP_001191948.1:n.259+2T>C | |
| NM_203391.3:c.259+2T>C | NP_976325.1:n.259+2T>C | |
| XM_005274488.3:c.-356-9255T>C | XP_005274545.1:n.-356-9255T>C | |
| XM_006724483.2:c.259+2T>C | XP_006724546.1:n.259+2T>C | |
| XM_006724484.2:c.259+2T>C | XP_006724547.1:n.259+2T>C | |
| XM_006724485.2:c.-357+2536T>C | XP_006724548.1:n.-357+2536T>C | |
| XM_006724486.2:c.-356-9255T>C | XP_006724549.1:n.-356-9255T>C | |
| XM_011545491.1:c.259+2T>C | XP_011543793.1:n.259+2T>C | |
| XM_011545492.1:c.259+2T>C | XP_011543794.1:n.259+2T>C | |
| XM_011545494.1:c.-440-9255T>C | XP_011543796.1:n.-440-9255T>C | |
| XM_005274488.4:c.-356-9255T>C | XP_005274545.1:n.-356-9255T>C | |
| XM_006724486.3:c.-356-9255T>C | XP_006724549.1:n.-356-9255T>C | |
| XM_011545491.2:c.259+2T>C | XP_011543793.1:n.259+2T>C | |
| XM_011545494.2:c.-440-9255T>C | XP_011543796.1:n.-440-9255T>C | |
| XM_017029409.1:c.-522+2T>C | XP_016884898.1:n.-522+2T>C | |
| XM_017029410.1:c.-356-9255T>C | XP_016884899.1:n.-356-9255T>C | |
| XM_017029411.1:c.-357+2536T>C | XP_016884900.1:n.-357+2536T>C | |
| XM_017029412.2:c.-356-9255T>C | XP_016884901.1:n.-356-9255T>C | |
| NM_000167.6:c.259+2T>C | NP_000158.1:n.259+2T>C | |
| NM_001128127.3:c.259+2T>C | NP_001121599.1:n.259+2T>C | |
| NM_001205019.2:c.259+2T>C MANE Select | NP_001191948.1:n.259+2T>C | |
| NM_203391.4:c.259+2T>C | NP_976325.1:n.259+2T>C | |
| NM_001399987.1:c.259+2T>C | NP_001386916.1:n.259+2T>C | |
| NR_174369.1:n.374+2T>C | ||
| NR_174370.1:n.267+2536T>C | ||
| NR_174371.1:n.194-9255T>C | ||
| NR_174372.1:n.194-9255T>C | ||
| NR_174373.1:n.267+2536T>C | ||
| NR_174374.1:n.194-9255T>C | ||
| NR_174375.1:n.194-9255T>C |