Linked Data
ClinVar Variation Id:
2525048
ClinVar RCV Id:
RCV004298310
dbSNP Id:
rs745551337
ExAC:
6:33636755 C / T
gnomAD v2:
6-33636755-C-T
gnomAD v3:
6-33668978-C-T
gnomAD v4:
6-33668978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33668978C>T , CM000668.2:g.33668978C>T | GRCh38 |
| NC_000006.11:g.33636755C>T , CM000668.1:g.33636755C>T | GRCh37 |
| NC_000006.10:g.33744733C>T | NCBI36 |
| NG_027729.1:g.52600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2011C>T MANE Select | ENSP00000475177.1:p.Arg671Trp | |
| ENST00000374316.9:c.2011C>T | ENSP00000363435.4:p.Arg671Trp | |
| ENST00000605930.2:c.2011C>T | ENSP00000475177.1:p.Arg671Trp | |
| NM_002224.3:c.2011C>T | NP_002215.2:p.Arg671Trp | |
| XM_011514576.1:c.2080C>T | XP_011512878.1:p.Arg694Trp | |
| XM_011514577.1:c.1828C>T | XP_011512879.1:p.Arg610Trp | |
| XM_011514577.3:c.1828C>T | XP_011512879.1:p.Arg610Trp | |
| XM_017010832.1:c.2011C>T | XP_016866321.1:p.Arg671Trp | |
| NM_002224.4:c.2011C>T MANE Select | NP_002215.2:p.Arg671Trp |