Linked Data
ClinVar Variation Id:
501931
dbSNP Id:
rs780680647
ExAC:
15:42698119 T / C
gnomAD v2:
15-42698119-T-C
gnomAD v3:
15-42405921-T-C
gnomAD v4:
15-42405921-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42405921T>C , CM000677.2:g.42405921T>C | GRCh38 |
| NC_000015.9:g.42698119T>C , CM000677.1:g.42698119T>C | GRCh37 |
| NC_000015.8:g.40485411T>C | NCBI36 |
| NG_008660.1:g.62819T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-82+953T>C | ENSP00000336840.4:n.-82+953T>C | |
| ENST00000349748.8:c.1638+2144T>C | ENSP00000183936.4:n.1638+2144T>C | |
| ENST00000357568.8:c.1782+2144T>C | ENSP00000350181.3:n.1782+2144T>C | |
| ENST00000397163.8:c.1783-5T>C MANE Select | ENSP00000380349.3:n.1783-5T>C | |
| ENST00000397204.9:c.-99-5T>C | ENSP00000380387.4:n.-99-5T>C | |
| ENST00000466369.5:n.2291+2144T>C | ||
| ENST00000495723.1:n.2671+2144T>C | ||
| ENST00000549793.5:n.2013+2144T>C | ||
| ENST00000565173.2:n.174+966T>C | ||
| ENST00000569136.6:c.-213-5T>C | ENSP00000455254.1:n.-213-5T>C | |
| ENST00000638141.2:n.1653+2144T>C | ||
| ENST00000673646.1:c.353-11T>C | ENSP00000501007.1:n.353-11T>C | |
| ENST00000673692.1:c.-4+1070T>C | ENSP00000501138.1:n.-4+1070T>C | |
| ENST00000673705.1:c.310-3382T>C | ENSP00000501021.1:n.310-3382T>C | |
| ENST00000673743.1:c.-437+966T>C | ENSP00000500989.1:n.-437+966T>C | |
| ENST00000673750.1:c.-2485T>C | ENSP00000501173.1:n.-2485T>C | |
| ENST00000673771.1:c.-196+953T>C | ENSP00000501023.1:n.-196+953T>C | |
| ENST00000673839.1:c.-340+966T>C | ENSP00000501188.1:n.-340+966T>C | |
| ENST00000673851.1:c.-557-5T>C | ENSP00000501142.1:n.-557-5T>C | |
| ENST00000673854.1:n.1955T>C | ||
| ENST00000673886.1:c.-928-776T>C | ENSP00000501155.1:n.-928-776T>C | |
| ENST00000673890.1:c.-196+966T>C | ENSP00000501293.1:n.-196+966T>C | |
| ENST00000673928.1:c.-340+966T>C | ENSP00000501099.1:n.-340+966T>C | |
| ENST00000673936.1:c.-196+1070T>C | ENSP00000501189.1:n.-196+1070T>C | |
| ENST00000673939.1:c.-82+966T>C | ENSP00000501129.1:n.-82+966T>C | |
| ENST00000673978.1:c.-362+966T>C | ENSP00000500976.1:n.-362+966T>C | |
| ENST00000673987.1:c.-213-5T>C | ENSP00000501231.1:n.-213-5T>C | |
| ENST00000674011.1:c.-196+966T>C | ENSP00000501171.1:n.-196+966T>C | |
| ENST00000674012.1:n.75+953T>C | ||
| ENST00000674018.1:c.-540+953T>C | ENSP00000501271.1:n.-540+953T>C | |
| ENST00000674041.1:c.-82+966T>C | ENSP00000500956.1:n.-82+966T>C | |
| ENST00000674052.1:c.2T>C | ENSP00000501057.1:p.Met1Thr | |
| ENST00000674064.1:n.179+966T>C | ||
| ENST00000674093.1:c.-82+966T>C | ENSP00000501303.1:n.-82+966T>C | |
| ENST00000674119.1:c.-82+1070T>C | ENSP00000501217.1:n.-82+1070T>C | |
| ENST00000674135.1:c.-132+966T>C | ENSP00000501178.1:n.-132+966T>C | |
| ENST00000674139.1:c.-2485T>C | ENSP00000501054.1:n.-2485T>C | |
| ENST00000674146.1:c.-541-5T>C | ENSP00000501175.1:n.-541-5T>C | |
| ENST00000674149.1:c.-524+966T>C | ENSP00000501112.1:n.-524+966T>C | |
| ENST00000318023.11:c.1639-5T>C | ENSP00000326281.8:n.1639-5T>C | |
| ENST00000337571.8:c.-82+966T>C | ENSP00000336840.4:n.-82+966T>C | |
| ENST00000349748.7:c.1638+2144T>C | ENSP00000183936.4:n.1638+2144T>C | |
| ENST00000356316.7:c.-91+957T>C | ENSP00000348667.4:n.-91+957T>C | |
| ENST00000357568.7:c.1782+2144T>C | ENSP00000350181.3:n.1782+2144T>C | |
| ENST00000397163.7:c.1783-5T>C | ENSP00000380349.3:n.1783-5T>C | |
| ENST00000397200.8:c.247-5T>C | ENSP00000380384.4:n.247-5T>C | |
| ENST00000397204.8:c.-99-5T>C | ENSP00000380387.4:n.-99-5T>C | |
| ENST00000561817.5:c.-82+966T>C | ENSP00000456575.1:n.-82+966T>C | |
| ENST00000565173.1:n.129+966T>C | ||
| ENST00000565559.5:c.-149-5T>C | ENSP00000457878.1:n.-149-5T>C | |
| ENST00000567071.5:c.242-5T>C | ||
| ENST00000569136.5:c.-213-5T>C | ENSP00000455254.1:n.-213-5T>C | |
| ENST00000569827.5:c.246+2144T>C | ENSP00000454379.1:n.246+2144T>C | |
| NM_000070.2:c.1783-5T>C | NP_000061.1:n.1783-5T>C | |
| NM_024344.1:c.1782+2144T>C | NP_077320.1:n.1782+2144T>C | |
| NM_173087.1:c.1638+2144T>C | NP_775110.1:n.1638+2144T>C | |
| NM_173088.1:c.247-5T>C | NP_775111.1:n.247-5T>C | |
| NM_173089.1:c.-82+966T>C | NP_775112.1:n.-82+966T>C | |
| NM_173090.1:c.-99-5T>C | NP_775113.1:n.-99-5T>C | |
| NM_000070.3:c.1783-5T>C MANE Select | NP_000061.1:n.1783-5T>C | |
| NM_024344.2:c.1782+2144T>C | NP_077320.1:n.1782+2144T>C | |
| NM_173087.2:c.1638+2144T>C | NP_775110.1:n.1638+2144T>C | |
| NM_173088.2:c.247-5T>C | NP_775111.1:n.247-5T>C | |
| NM_173089.2:c.-82+966T>C | NP_775112.1:n.-82+966T>C | |
| NM_173090.2:c.-99-5T>C | NP_775113.1:n.-99-5T>C |