Linked Data
dbSNP Id:
rs890110092
gnomAD v2:
6-33636611-C-A
gnomAD v3:
6-33668834-C-A
gnomAD v4:
6-33668834-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33668834C>A , CM000668.2:g.33668834C>A | GRCh38 |
| NC_000006.11:g.33636611C>A , CM000668.1:g.33636611C>A | GRCh37 |
| NC_000006.10:g.33744589C>A | NCBI36 |
| NG_027729.1:g.52456C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605930.3:c.2007-140C>A MANE Select | ENSP00000475177.1:n.2007-140C>A | |
| ENST00000374316.9:c.2007-140C>A | ENSP00000363435.4:n.2007-140C>A | |
| ENST00000605930.2:c.2007-140C>A | ENSP00000475177.1:n.2007-140C>A | |
| NM_002224.3:c.2007-140C>A | NP_002215.2:n.2007-140C>A | |
| XM_011514576.1:c.2076-140C>A | XP_011512878.1:n.2076-140C>A | |
| XM_011514577.1:c.1824-140C>A | XP_011512879.1:n.1824-140C>A | |
| XM_011514577.3:c.1824-140C>A | XP_011512879.1:n.1824-140C>A | |
| XM_017010832.1:c.2007-140C>A | XP_016866321.1:n.2007-140C>A | |
| NM_002224.4:c.2007-140C>A MANE Select | NP_002215.2:n.2007-140C>A |