Linked Data
ClinVar Variation Id:
12510
ClinVar RCV Id:
RCV000013334
dbSNP Id:
rs104893814
PubMed:
PMID:15731757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672252G>T , CM000665.2:g.30672252G>T | GRCh38 |
| NC_000003.11:g.30713744G>T , CM000665.1:g.30713744G>T | GRCh37 |
| NC_000003.10:g.30688748G>T | NCBI36 |
| NG_007490.1:g.70751G>T , LRG_779:g.70751G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1069G>T MANE Select | ENSP00000295754.5:p.Gly357Trp | |
| ENST00000672866.1:n.2665G>T | ||
| ENST00000295754.9:c.1069G>T | ENSP00000295754.5:p.Gly357Trp | |
| ENST00000359013.4:c.1144G>T | ENSP00000351905.4:p.Gly382Trp | |
| NM_001024847.2:c.1144G>T , LRG_779t1:c.1144G>T | NP_001020018.1:p.Gly382Trp | |
| NM_003242.5:c.1069G>T | NP_003233.4:p.Gly357Trp | |
| XM_011534043.1:c.1096G>T | XP_011532345.1:p.Gly366Trp | |
| XM_011534044.1:c.1021G>T | XP_011532346.1:p.Gly341Trp | |
| XM_011534045.1:c.964G>T | XP_011532347.1:p.Gly322Trp | |
| XM_011534043.2:c.1096G>T | XP_011532345.1:p.Gly366Trp | |
| XM_011534045.3:c.964G>T | XP_011532347.1:p.Gly322Trp | |
| XM_017007106.1:c.964G>T | XP_016862595.1:p.Gly322Trp | |
| NM_003242.6:c.1069G>T MANE Select | NP_003233.4:p.Gly357Trp |