Linked Data
ClinVar Variation Id:
350030
dbSNP Id:
rs150947109
ExAC:
4:88996659 G / A
gnomAD v2:
4-88996659-G-A
gnomAD v3:
4-88075507-G-A
gnomAD v4:
4-88075507-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88075507G>A , CM000666.2:g.88075507G>A | GRCh38 |
| NC_000004.11:g.88996659G>A , CM000666.1:g.88996659G>A | GRCh37 |
| NC_000004.10:g.89215683G>A | NCBI36 |
| NG_008604.1:g.72840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2720G>A MANE Select | ENSP00000237596.2:p.Arg907Gln | |
| ENST00000237596.6:c.2720G>A | ENSP00000237596.2:p.Arg907Gln | |
| ENST00000502363.1:c.974G>A | ENSP00000425289.1:p.Arg325Gln | |
| ENST00000508588.5:c.974G>A | ENSP00000427131.1:p.Arg325Gln | |
| ENST00000511337.5:n.972G>A | ||
| ENST00000512858.1:n.1198G>A | ||
| NM_000297.3:c.2720G>A | NP_000288.1:p.Arg907Gln | |
| XM_011532028.1:c.2495G>A | XP_011530330.1:p.Arg832Gln | |
| XM_011532029.1:c.2000G>A | XP_011530331.1:p.Arg667Gln | |
| XM_011532030.1:c.1880G>A | XP_011530332.1:p.Arg627Gln | |
| NR_156488.1:n.2686G>A | ||
| XM_011532028.2:c.2495G>A | XP_011530330.1:p.Arg832Gln | |
| XM_011532030.2:c.1880G>A | XP_011530332.1:p.Arg627Gln | |
| NM_000297.4:c.2720G>A MANE Select | NP_000288.1:p.Arg907Gln | |
| NR_156488.2:n.2698G>A |