Linked Data
ClinVar Variation Id:
2113583
ClinVar RCV Id:
RCV003029618
dbSNP Id:
rs753570181
ExAC:
2:219757924 C / T
gnomAD v2:
2-219757924-C-T
gnomAD v4:
2-218893202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893202C>T , CM000664.2:g.218893202C>T | GRCh38 |
| NC_000002.11:g.219757924C>T , CM000664.1:g.219757924C>T | GRCh37 |
| NC_000002.10:g.219466168C>T | NCBI36 |
| NG_012179.1:g.17670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1185C>T MANE Select | ENSP00000258411.3:p.Arg395= | |
| ENST00000258411.7:c.1185C>T | ENSP00000258411.3:p.Arg395= | |
| NM_025216.2:c.1185C>T | NP_079492.2:p.Arg395= | |
| XM_011511928.1:c.1134C>T | XP_011510230.1:p.Arg378= | |
| XM_011511929.1:c.1089C>T | XP_011510231.1:p.Arg363= | |
| XM_011511930.1:c.805C>T | XP_011510232.1:p.Leu269Phe | |
| XM_011511929.2:c.1089C>T | XP_011510231.1:p.Arg363= | |
| NM_025216.3:c.1185C>T MANE Select | NP_079492.2:p.Arg395= |