Linked Data
ClinVar Variation Id:
338889
ClinVar RCV Id:
RCV001683352
dbSNP Id:
rs2070756
ExAC:
20:56139403 T / C
gnomAD v2:
20-56139403-T-C
gnomAD v3:
20-57564347-T-C
gnomAD v4:
20-57564347-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57564347T>C , CM000682.2:g.57564347T>C | GRCh38 |
| NC_000020.10:g.56139403T>C , CM000682.1:g.56139403T>C | GRCh37 |
| NC_000020.9:g.55572809T>C | NCBI36 |
| NG_008205.1:g.8267T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319441.6:c.1140T>C MANE Select | ENSP00000319814.4:p.Gly380= | |
| ENST00000319441.5:c.1140T>C | ENSP00000319814.4:p.Gly380= | |
| ENST00000467047.1:n.3268T>C | ||
| ENST00000485958.1:n.264T>C | ||
| NM_002591.3:c.1140T>C | NP_002582.3:p.Gly380= | |
| XM_011528839.1:c.744T>C | XP_011527141.1:p.Gly248= | |
| XM_024451888.1:c.744T>C | XP_024307656.1:p.Gly248= | |
| NM_002591.4:c.1140T>C MANE Select | NP_002582.3:p.Gly380= |