Linked Data
ClinVar Variation Id:
1907593
ClinVar RCV Id:
RCV003776600
dbSNP Id:
rs777537093
gnomAD v2:
5-147498056-G-A
gnomAD v4:
5-148118493-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148118493G>A , CM000667.2:g.148118493G>A | GRCh38 |
| NC_000005.9:g.147498056G>A , CM000667.1:g.147498056G>A | GRCh37 |
| NC_000005.8:g.147478249G>A | NCBI36 |
| NG_009633.1:g.59522G>A , LRG_110:g.59522G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2169G>A MANE Select | ENSP00000256084.7:p.Arg723= | |
| ENST00000256084.7:c.2169G>A | ENSP00000256084.7:p.Arg723= | |
| ENST00000359874.7:c.2169G>A | ENSP00000352936.3:p.Arg723= | |
| ENST00000398454.5:c.2169G>A | ENSP00000381472.1:p.Arg723= | |
| ENST00000507988.5:n.2333G>A | ||
| ENST00000508733.5:c.2112G>A | ENSP00000421519.1:p.Arg704= | |
| NM_001127698.1:c.2169G>A | NP_001121170.1:p.Arg723= | |
| NM_001127699.1:c.2169G>A | NP_001121171.1:p.Arg723= | |
| NM_006846.3:c.2169G>A , LRG_110t1:c.2169G>A | NP_006837.2:p.Arg723= | |
| XM_011537550.1:c.2112G>A | XP_011535852.1:p.Arg704= | |
| XM_011537551.1:c.2085G>A | XP_011535853.1:p.Arg695= | |
| XM_011537551.2:c.2085G>A | XP_011535853.1:p.Arg695= | |
| NM_001127698.2:c.2169G>A | NP_001121170.1:p.Arg723= | |
| NM_001127699.2:c.2169G>A | NP_001121171.1:p.Arg723= | |
| NM_006846.4:c.2169G>A MANE Select | NP_006837.2:p.Arg723= |