Linked Data
ClinVar Variation Id:
2997377
ClinVar RCV Id:
RCV003851496
dbSNP Id:
rs2145507480
MyVariant Identifiers:
chr20:g.44684803A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056164A>C , CM000682.2:g.46056164A>C | GRCh38 |
| NC_000020.10:g.44684803A>C , CM000682.1:g.44684803A>C | GRCh37 |
| NC_000020.9:g.44118210A>C | NCBI36 |
| NG_046341.1:g.39475A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2802A>C MANE Select | ENSP00000243964.4:p.Thr934= | |
| ENST00000243964.6:c.2802A>C | ENSP00000243964.3:p.Thr934= | |
| ENST00000454036.6:c.2871A>C | ENSP00000387694.1:p.Thr957= | |
| ENST00000616201.4:c.1298-2492A>C | ENSP00000484585.1:n.1298-2492A>C | |
| ENST00000616202.4:c.613-2317A>C | ENSP00000478369.1:n.613-2317A>C | |
| ENST00000616933.4:c.*2120A>C | ENSP00000477569.1:n.*2120A>C | |
| ENST00000626937.2:c.510-3435A>C | ENSP00000485953.1:n.510-3435A>C | |
| ENST00000628413.1:n.318A>C | ||
| NM_001134771.1:c.2871A>C | NP_001128243.1:p.Thr957= | |
| NM_020708.4:c.2802A>C | NP_065759.1:p.Thr934= | |
| XM_017027981.1:c.2871A>C | XP_016883470.1:p.Thr957= | |
| NM_001134771.2:c.2871A>C | NP_001128243.1:p.Thr957= | |
| NM_020708.5:c.2802A>C MANE Select | NP_065759.1:p.Thr934= |