Linked Data
ClinVar Variation Id:
384973
dbSNP Id:
rs142111310
ExAC:
20:47989763 G / A
gnomAD v2:
20-47989763-G-A
gnomAD v3:
20-49373226-G-A
gnomAD v4:
20-49373226-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49373226G>A , CM000682.2:g.49373226G>A | GRCh38 |
| NC_000020.10:g.47989763G>A , CM000682.1:g.47989763G>A | GRCh37 |
| NC_000020.9:g.47423170G>A | NCBI36 |
| NG_041781.1:g.114419C>T | |
| NG_041781.2:g.114419C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371741.6:c.2334C>T MANE Select | ENSP00000360806.3:p.Leu778= | |
| ENST00000635878.1:c.97-73843C>T | ENSP00000489908.1:n.97-73843C>T | |
| ENST00000637341.1:n.206+41202G>A | ||
| ENST00000371741.5:c.2334C>T | ENSP00000360806.3:p.Leu778= | |
| ENST00000635465.1:c.2334C>T | ENSP00000489193.1:p.Leu778= | |
| NM_004975.2:c.2334C>T | NP_004966.1:p.Leu778= | |
| XM_006723784.2:c.2334C>T | XP_006723847.1:p.Leu778= | |
| XM_011528799.1:c.2334C>T | XP_011527101.1:p.Leu778= | |
| NM_004975.3:c.2334C>T | NP_004966.1:p.Leu778= | |
| XM_006723784.3:c.2334C>T | XP_006723847.1:p.Leu778= | |
| XM_011528799.2:c.2334C>T | XP_011527101.1:p.Leu778= | |
| XR_001754659.1:n.156+41202G>A | ||
| NM_004975.4:c.2334C>T MANE Select | NP_004966.1:p.Leu778= |