Linked Data
ClinVar Variation Id:
344657
dbSNP Id:
rs886058304
gnomAD v2:
3-30713296-G-A
gnomAD v4:
3-30671804-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30671804G>A , CM000665.2:g.30671804G>A | GRCh38 |
| NC_000003.11:g.30713296G>A , CM000665.1:g.30713296G>A | GRCh37 |
| NC_000003.10:g.30688300G>A | NCBI36 |
| NG_007490.1:g.70303G>A , LRG_779:g.70303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.621G>A MANE Select | ENSP00000295754.5:p.Arg207= | |
| ENST00000672866.1:n.2217G>A | ||
| ENST00000295754.9:c.621G>A | ENSP00000295754.5:p.Arg207= | |
| ENST00000359013.4:c.696G>A | ENSP00000351905.4:p.Arg232= | |
| NM_001024847.2:c.696G>A , LRG_779t1:c.696G>A | NP_001020018.1:p.Arg232= | |
| NM_003242.5:c.621G>A | NP_003233.4:p.Arg207= | |
| XM_011534043.1:c.648G>A | XP_011532345.1:p.Arg216= | |
| XM_011534044.1:c.573G>A | XP_011532346.1:p.Arg191= | |
| XM_011534045.1:c.516G>A | XP_011532347.1:p.Arg172= | |
| XM_011534043.2:c.648G>A | XP_011532345.1:p.Arg216= | |
| XM_011534045.3:c.516G>A | XP_011532347.1:p.Arg172= | |
| XM_017007106.1:c.516G>A | XP_016862595.1:p.Arg172= | |
| NM_003242.6:c.621G>A MANE Select | NP_003233.4:p.Arg207= |