Linked Data
ClinVar Variation Id:
2996492
ClinVar RCV Id:
RCV003856643
dbSNP Id:
rs568884207
ExAC:
21:43796683 C / T
gnomAD v2:
21-43796683-C-T
gnomAD v3:
21-42376574-C-T
gnomAD v4:
21-42376574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42376574C>T , CM000683.2:g.42376574C>T | GRCh38 |
| NC_000021.8:g.43796683C>T , CM000683.1:g.43796683C>T | GRCh37 |
| NC_000021.7:g.42669752C>T | NCBI36 |
| NG_011629.1:g.24518G>A | |
| NG_011629.2:g.24518G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.1161G>A | ENSP00000411013.3:p.Ala387= | |
| ENST00000644384.2:c.1158G>A MANE Select | ENSP00000494414.1:p.Ala386= | |
| ENST00000652415.1:c.1158G>A | ENSP00000498756.1:p.Ala386= | |
| ENST00000291532.7:c.1161G>A | ENSP00000291532.3:p.Ala387= | |
| ENST00000398405.5:c.1152G>A | ENSP00000381442.1:p.Ala384= | |
| ENST00000433957.6:c.1158G>A | ENSP00000411013.2:p.Ala386= | |
| ENST00000474596.5:n.1029G>A | ||
| ENST00000476848.5:n.1893G>A | ||
| ENST00000482761.1:n.1448G>A | ||
| NM_001256317.1:c.1158G>A | NP_001243246.1:p.Ala386= | |
| NM_024022.2:c.1161G>A | NP_076927.1:p.Ala387= | |
| NM_032404.2:c.780G>A | NP_115780.1:p.Ala260= | |
| NR_046020.1:n.2117G>A | ||
| NM_001256317.2:c.1158G>A | NP_001243246.1:p.Ala386= | |
| NM_024022.3:c.1161G>A | NP_076927.1:p.Ala387= | |
| NM_001256317.3:c.1158G>A MANE Select | NP_001243246.1:p.Ala386= | |
| NM_024022.4:c.1161G>A | NP_076927.1:p.Ala387= | |
| NM_032404.3:c.780G>A | NP_115780.1:p.Ala260= |