Linked Data
ClinVar Variation Id:
476636
ClinVar RCV Id:
RCV000556301
dbSNP Id:
rs747374340
ExAC:
1:154245213 A / C
gnomAD v2:
1-154245213-A-C
gnomAD v4:
1-154272737-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154272737A>C , CM000663.2:g.154272737A>C | GRCh38 |
| NC_000001.10:g.154245213A>C , CM000663.1:g.154245213A>C | GRCh37 |
| NC_000001.9:g.152511837A>C | NCBI36 |
| NG_007369.1:g.5175A>C , LRG_64:g.5175A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435087.2:c.14A>C | ENSP00000394920.2:p.Asp5Ala | |
| ENST00000447768.7:c.14A>C | ENSP00000403848.2:p.Asp5Ala | |
| ENST00000459914.2:n.115A>C | ||
| ENST00000471326.6:n.131A>C | ||
| ENST00000477780.3:n.101A>C | ||
| ENST00000483970.7:c.14A>C | ENSP00000435088.1:p.Asp5Ala | |
| ENST00000531435.6:n.184A>C | ||
| ENST00000696929.1:c.14A>C | ENSP00000512978.1:p.Asp5Ala | |
| ENST00000696931.1:n.115A>C | ||
| ENST00000696932.1:c.14A>C | ENSP00000512979.1:p.Asp5Ala | |
| ENST00000696933.1:c.14A>C | ENSP00000512980.1:p.Asp5Ala | |
| ENST00000696938.1:c.14A>C | ENSP00000512983.1:p.Asp5Ala | |
| ENST00000696941.1:c.-42A>C | ENSP00000512986.1:n.-42A>C | |
| ENST00000696944.1:c.-155A>C | ENSP00000512989.1:n.-155A>C | |
| ENST00000696945.1:c.-167A>C | ENSP00000512990.1:n.-167A>C | |
| ENST00000696965.1:c.-48A>C | ENSP00000513004.1:n.-48A>C | |
| ENST00000696966.1:c.-167A>C | ENSP00000513005.1:n.-167A>C | |
| ENST00000697592.1:c.-71A>C | ENSP00000513356.1:n.-71A>C | |
| ENST00000697830.1:c.-26+34A>C | ENSP00000513452.1:n.-26+34A>C | |
| ENST00000328703.12:c.14A>C MANE Select | ENSP00000329002.7:p.Asp5Ala | |
| ENST00000328703.11:c.14A>C | ENSP00000329002.7:p.Asp5Ala | |
| ENST00000435087.1:c.14A>C | ENSP00000394920.1:p.Asp5Ala | |
| ENST00000447768.6:c.14A>C | ENSP00000403848.2:p.Asp5Ala | |
| ENST00000457918.6:c.14A>C | ENSP00000411448.2:p.Asp5Ala | |
| ENST00000477780.2:n.101A>C | ||
| ENST00000483970.6:c.14A>C | ENSP00000435088.1:p.Asp5Ala | |
| ENST00000531435.5:n.109A>C | ||
| ENST00000532105.1:c.-108A>C | ENSP00000433951.1:n.-108A>C | |
| NM_001018837.1:c.14A>C | NP_001018238.1:p.Asp5Ala | |
| NM_006118.3:c.14A>C , LRG_64t1:c.14A>C | NP_006109.2:p.Asp5Ala | |
| NM_001018837.2:c.14A>C | NP_001018238.1:p.Asp5Ala | |
| NM_006118.4:c.14A>C MANE Select | NP_006109.2:p.Asp5Ala |