Linked Data
ClinVar Variation Id:
500496
ClinVar RCV Id:
RCV000594791
dbSNP Id:
rs187282966
ExAC:
19:7141704 C / T
gnomAD v2:
19-7141704-C-T
gnomAD v3:
19-7141693-C-T
gnomAD v4:
19-7141693-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7141693C>T , CM000681.2:g.7141693C>T | GRCh38 |
| NC_000019.9:g.7141704C>T , CM000681.1:g.7141704C>T | GRCh37 |
| NC_000019.8:g.7092704C>T | NCBI36 |
| NG_008852.2:g.157308G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.2666G>A MANE Select | ENSP00000303830.4:p.Arg889Gln | |
| ENST00000302850.9:c.2666G>A | ENSP00000303830.4:p.Arg889Gln | |
| ENST00000341500.9:c.2630G>A | ENSP00000342838.4:p.Arg877Gln | |
| ENST00000597211.1:n.349G>A | ||
| NM_000208.2:c.2666G>A | NP_000199.2:p.Arg889Gln | |
| NM_000208.3:c.2666G>A | NP_000199.2:p.Arg889Gln | |
| NM_001079817.1:c.2630G>A | NP_001073285.1:p.Arg877Gln | |
| NM_001079817.2:c.2630G>A | NP_001073285.1:p.Arg877Gln | |
| XM_011527988.1:c.2744G>A | XP_011526290.1:p.Arg915Gln | |
| XM_011527989.1:c.2708G>A | XP_011526291.1:p.Arg903Gln | |
| XM_011527988.2:c.2666G>A | XP_011526290.2:p.Arg889Gln | |
| XM_011527989.3:c.2630G>A | XP_011526291.2:p.Arg877Gln | |
| NM_000208.4:c.2666G>A MANE Select | NP_000199.2:p.Arg889Gln | |
| NM_001079817.3:c.2630G>A | NP_001073285.1:p.Arg877Gln |