Linked Data
ClinVar Variation Id:
1329461
ClinVar RCV Id:
RCV001799537
dbSNP Id:
rs2148349096
MutSpliceDB:
CA413704915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77634592A>C , CM000685.2:g.77634592A>C | GRCh38 |
| NC_000023.10:g.76890083A>C , CM000685.1:g.76890083A>C | GRCh37 |
| NC_000023.9:g.76776739A>C | NCBI36 |
| NG_008838.2:g.156630T>G | |
| NG_008838.3:g.156678T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4809+2T>G MANE Select | ENSP00000362441.4:n.4809+2T>G | |
| ENST00000373344.9:c.4809+2T>G | ENSP00000362441.4:n.4809+2T>G | |
| ENST00000395603.7:c.4695+2T>G | ENSP00000378967.3:n.4695+2T>G | |
| ENST00000460639.2:n.291T>G | ||
| ENST00000480283.5:c.*4437+2T>G | ENSP00000480196.1:n.*4437+2T>G | |
| ENST00000623242.3:c.546+2T>G | ||
| NM_000489.4:c.4809+2T>G | NP_000480.3:n.4809+2T>G | |
| NM_138270.3:c.4695+2T>G | NP_612114.2:n.4695+2T>G | |
| XM_005262153.3:c.4806+2T>G | XP_005262210.2:n.4806+2T>G | |
| XM_005262154.3:c.4722+2T>G | XP_005262211.2:n.4722+2T>G | |
| XM_005262155.3:c.4692+2T>G | XP_005262212.2:n.4692+2T>G | |
| XM_005262156.3:c.4644+2T>G | XP_005262213.2:n.4644+2T>G | |
| XM_005262157.3:c.4605+2T>G | XP_005262214.2:n.4605+2T>G | |
| XM_006724666.2:c.4692+2T>G | XP_006724729.1:n.4692+2T>G | |
| XM_006724667.2:c.4530+2T>G | XP_006724730.1:n.4530+2T>G | |
| XM_006724668.2:c.4809+2T>G | XP_006724731.1:n.4809+2T>G | |
| XR_938400.1:n.5077+2T>G | ||
| NM_000489.5:c.4809+2T>G | NP_000480.3:n.4809+2T>G | |
| XM_005262153.5:c.4806+2T>G | XP_005262210.2:n.4806+2T>G | |
| XM_005262154.5:c.4722+2T>G | XP_005262211.2:n.4722+2T>G | |
| XM_005262155.4:c.4692+2T>G | XP_005262212.2:n.4692+2T>G | |
| XM_005262156.4:c.4644+2T>G | XP_005262213.2:n.4644+2T>G | |
| XM_005262157.5:c.4605+2T>G | XP_005262214.2:n.4605+2T>G | |
| XM_006724666.4:c.4692+2T>G | XP_006724729.1:n.4692+2T>G | |
| XM_006724667.3:c.4530+2T>G | XP_006724730.1:n.4530+2T>G | |
| XM_006724668.3:c.4809+2T>G | XP_006724731.1:n.4809+2T>G | |
| XM_017029601.2:c.4719+2T>G | XP_016885090.1:n.4719+2T>G | |
| XM_017029602.1:c.4689+2T>G | XP_016885091.1:n.4689+2T>G | |
| XM_017029603.1:c.4641+2T>G | XP_016885092.1:n.4641+2T>G | |
| XM_017029604.2:c.4608+2T>G | XP_016885093.1:n.4608+2T>G | |
| XM_017029605.1:c.4605+2T>G | XP_016885094.1:n.4605+2T>G | |
| XM_017029606.2:c.4578+2T>G | XP_016885095.1:n.4578+2T>G | |
| XM_017029607.2:c.4575+2T>G | XP_016885096.1:n.4575+2T>G | |
| XM_017029608.2:c.4527+2T>G | XP_016885097.1:n.4527+2T>G | |
| XM_017029609.1:c.4491+2T>G | XP_016885098.1:n.4491+2T>G | |
| XM_017029610.1:c.4488+2T>G | XP_016885099.1:n.4488+2T>G | |
| XM_017029611.1:c.4443+2T>G | XP_016885100.1:n.4443+2T>G | |
| XR_001755700.2:n.5034+2T>G | ||
| NM_138270.4:c.4695+2T>G | NP_612114.2:n.4695+2T>G | |
| NM_000489.6:c.4809+2T>G MANE Select | NP_000480.3:n.4809+2T>G | |
| NM_138270.5:c.4695+2T>G | NP_612114.2:n.4695+2T>G |