Linked Data
ClinVar Variation Id:
17003
ClinVar RCV Id:
RCV000018526
RCV000080368
RCV000211765
RCV000412297
RCV001004394
RCV001257039
RCV001526518
RCV002496399
dbSNP Id:
rs104894397
ExAC:
13:20763492 A / G
gnomAD v2:
13-20763492-A-G
gnomAD v3:
13-20189353-A-G
gnomAD v4:
13-20189353-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189353A>G , CM000675.2:g.20189353A>G | GRCh38 |
| NC_000013.10:g.20763492A>G , CM000675.1:g.20763492A>G | GRCh37 |
| NC_000013.9:g.19661492A>G | NCBI36 |
| NG_008358.1:g.8623T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.229T>C | ENSP00000372295.1:p.Trp77Arg | |
| ENST00000382848.5:c.229T>C MANE Select | ENSP00000372299.4:p.Trp77Arg | |
| ENST00000382844.1:c.229T>C | ENSP00000372295.1:p.Trp77Arg | |
| ENST00000382848.4:c.229T>C | ENSP00000372299.4:p.Trp77Arg | |
| NM_004004.5:c.229T>C | NP_003995.2:p.Trp77Arg | |
| XM_011535049.1:c.229T>C | XP_011533351.1:p.Trp77Arg | |
| XM_011535049.2:c.229T>C | XP_011533351.1:p.Trp77Arg | |
| NM_004004.6:c.229T>C MANE Select | NP_003995.2:p.Trp77Arg |