Linked Data
dbSNP Id:
rs200596108
ExAC:
20:56138000 G / C
gnomAD v2:
20-56138000-G-C
gnomAD v3:
20-57562944-G-C
gnomAD v4:
20-57562944-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562944G>C , CM000682.2:g.57562944G>C | GRCh38 |
| NC_000020.10:g.56138000G>C , CM000682.1:g.56138000G>C | GRCh37 |
| NC_000020.9:g.55571406G>C | NCBI36 |
| NG_008205.1:g.6864G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.610+45G>C MANE Select | ENSP00000319814.4:n.610+45G>C | |
| ENST00000319441.5:c.610+45G>C | ENSP00000319814.4:n.610+45G>C | |
| ENST00000467047.1:n.1865G>C | ||
| ENST00000470051.1:n.111G>C | ||
| ENST00000498194.1:n.552+45G>C | ||
| NM_002591.3:c.610+45G>C | NP_002582.3:n.610+45G>C | |
| XM_011528839.1:c.214+45G>C | XP_011527141.1:n.214+45G>C | |
| XM_024451888.1:c.214+45G>C | XP_024307656.1:n.214+45G>C | |
| NM_002591.4:c.610+45G>C MANE Select | NP_002582.3:n.610+45G>C |