Linked Data
dbSNP Id:
rs778011626
ExAC:
20:56137966 T / C
gnomAD v2:
20-56137966-T-C
gnomAD v3:
20-57562910-T-C
gnomAD v4:
20-57562910-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562910T>C , CM000682.2:g.57562910T>C | GRCh38 |
| NC_000020.10:g.56137966T>C , CM000682.1:g.56137966T>C | GRCh37 |
| NC_000020.9:g.55571372T>C | NCBI36 |
| NG_008205.1:g.6830T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.610+11T>C MANE Select | ENSP00000319814.4:n.610+11T>C | |
| ENST00000319441.5:c.610+11T>C | ENSP00000319814.4:n.610+11T>C | |
| ENST00000467047.1:n.1831T>C | ||
| ENST00000470051.1:n.77T>C | ||
| ENST00000498194.1:n.552+11T>C | ||
| NM_002591.3:c.610+11T>C | NP_002582.3:n.610+11T>C | |
| XM_011528839.1:c.214+11T>C | XP_011527141.1:n.214+11T>C | |
| XM_024451888.1:c.214+11T>C | XP_024307656.1:n.214+11T>C | |
| NM_002591.4:c.610+11T>C MANE Select | NP_002582.3:n.610+11T>C |