Linked Data
ClinVar Variation Id:
178997
ClinVar RCV Id:
RCV000155775
dbSNP Id:
rs567503320
gnomAD v3:
21-42389017-T-G
gnomAD v4:
21-42389017-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42389017T>G , CM000683.2:g.42389017T>G | GRCh38 |
| NC_000021.8:g.43809126T>G , CM000683.1:g.43809126T>G | GRCh37 |
| NC_000021.7:g.42682195T>G | NCBI36 |
| NG_011629.1:g.12075A>C | |
| NG_011629.2:g.12075A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.234A>C | ENSP00000411013.3:p.Arg78Ser | |
| ENST00000644384.2:c.234A>C MANE Select | ENSP00000494414.1:p.Arg78Ser | |
| ENST00000652415.1:c.234A>C | ENSP00000498756.1:p.Arg78Ser | |
| ENST00000291532.7:c.234A>C | ENSP00000291532.3:p.Arg78Ser | |
| ENST00000398397.3:c.234A>C | ENSP00000381434.3:p.Arg78Ser | |
| ENST00000398405.5:c.228A>C | ENSP00000381442.1:p.Arg76Ser | |
| ENST00000433957.6:c.234A>C | ENSP00000411013.2:p.Arg78Ser | |
| ENST00000474596.5:n.102A>C | ||
| ENST00000482761.1:n.521A>C | ||
| NM_001256317.1:c.234A>C | NP_001243246.1:p.Arg78Ser | |
| NM_024022.2:c.234A>C | NP_076927.1:p.Arg78Ser | |
| NM_032404.2:c.-148A>C | NP_115780.1:n.-148A>C | |
| NM_032405.1:c.234A>C | NP_115781.1:p.Arg78Ser | |
| NR_046020.1:n.1190A>C | ||
| NM_001256317.2:c.234A>C | NP_001243246.1:p.Arg78Ser | |
| NM_024022.3:c.234A>C | NP_076927.1:p.Arg78Ser | |
| NM_032405.2:c.234A>C | NP_115781.1:p.Arg78Ser | |
| NM_001256317.3:c.234A>C MANE Select | NP_001243246.1:p.Arg78Ser | |
| NM_024022.4:c.234A>C | NP_076927.1:p.Arg78Ser | |
| NM_032404.3:c.-148A>C | NP_115780.1:n.-148A>C |