Linked Data
ClinVar Variation Id:
2149763
ClinVar RCV Id:
RCV003065649
dbSNP Id:
rs373926115
ExAC:
7:42012039 C / T
gnomAD v2:
7-42012039-C-T
gnomAD v3:
7-41972440-C-T
gnomAD v4:
7-41972440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972440C>T , CM000669.2:g.41972440C>T | GRCh38 |
| NC_000007.13:g.42012039C>T , CM000669.1:g.42012039C>T | GRCh37 |
| NC_000007.12:g.41978564C>T | NCBI36 |
| NG_008434.1:g.269580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2000G>A MANE Select | ENSP00000379258.3:p.Arg667Gln | |
| ENST00000677288.1:c.1826G>A | ENSP00000503986.1:p.Arg609Gln | |
| ENST00000677605.1:c.2000G>A | ENSP00000503743.1:p.Arg667Gln | |
| ENST00000678429.1:c.2000G>A | ENSP00000502957.1:p.Arg667Gln | |
| ENST00000395925.7:c.2000G>A | ENSP00000379258.3:p.Arg667Gln | |
| ENST00000464291.1:n.553G>A | ||
| ENST00000479210.1:n.1977G>A | ||
| NM_000168.5:c.2000G>A | NP_000159.3:p.Arg667Gln | |
| XM_005249703.1:c.2000G>A | XP_005249760.1:p.Arg667Gln | |
| XM_005249704.2:c.2000G>A | XP_005249761.1:p.Arg667Gln | |
| XM_011515272.1:c.2000G>A | XP_011513574.1:p.Arg667Gln | |
| XM_011515273.1:c.2000G>A | XP_011513575.1:p.Arg667Gln | |
| XM_011515274.1:c.1823G>A | XP_011513576.1:p.Arg608Gln | |
| XM_011515274.2:c.1823G>A | XP_011513576.1:p.Arg608Gln | |
| XM_017011997.1:c.1997G>A | XP_016867486.1:p.Arg666Gln | |
| NM_000168.6:c.2000G>A MANE Select | NP_000159.3:p.Arg667Gln |