Linked Data
ClinVar Variation Id:
1420240
ClinVar RCV Id:
RCV001914126
dbSNP Id:
rs199742437
ExAC:
5:35867499 A / C
gnomAD v2:
5-35867499-A-C
gnomAD v3:
5-35867397-A-C
gnomAD v4:
5-35867397-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867397A>C , CM000667.2:g.35867397A>C | GRCh38 |
| NC_000005.9:g.35867499A>C , CM000667.1:g.35867499A>C | GRCh37 |
| NC_000005.8:g.35903256A>C | NCBI36 |
| NG_009567.1:g.15509A>C , LRG_74:g.15509A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.313A>C MANE Select | ENSP00000306157.3:p.Ser105Arg | |
| ENST00000303115.7:c.313A>C | ENSP00000306157.3:p.Ser105Arg | |
| ENST00000506850.5:c.313A>C | ENSP00000421207.1:p.Ser105Arg | |
| ENST00000511031.1:n.447A>C | ||
| ENST00000511982.1:c.313A>C | ENSP00000425309.1:p.Ser105Arg | |
| ENST00000514217.5:c.313A>C | ENSP00000427688.1:p.Ser105Arg | |
| NM_002185.3:c.313A>C | NP_002176.2:p.Ser105Arg | |
| NR_120485.1:n.416A>C | ||
| XM_005248299.2:c.313A>C | XP_005248356.1:p.Ser105Arg | |
| XM_005248300.1:c.313A>C | XP_005248357.1:p.Ser105Arg | |
| XM_011514037.1:c.313A>C | XP_011512339.1:p.Ser105Arg | |
| NM_002185.4:c.313A>C | NP_002176.2:p.Ser105Arg | |
| NR_120485.2:n.442A>C | ||
| XM_005248299.4:c.313A>C | XP_005248356.1:p.Ser105Arg | |
| NM_002185.5:c.313A>C MANE Select | NP_002176.2:p.Ser105Arg | |
| NR_120485.3:n.400A>C |