Linked Data
ClinVar Variation Id:
371557
ClinVar RCV Id:
RCV000410207
dbSNP Id:
rs1057517365
gnomAD v4:
11-68048883-G-A
PubMed:
PMID:25829125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68048883G>A , CM000673.2:g.68048883G>A | GRCh38 |
| NC_000011.9:g.67816350G>A , CM000673.1:g.67816350G>A | GRCh37 |
| NC_000011.8:g.67572926G>A | NCBI36 |
| NG_007878.1:g.14868G>A , LRG_115:g.14868G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530449.2:n.184G>A | ||
| ENST00000698254.1:c.1088G>A | ENSP00000513629.1:p.Trp363Ter | |
| ENST00000698255.1:c.1508G>A | ENSP00000513630.1:p.Trp503Ter | |
| ENST00000698256.1:c.1025G>A | ||
| ENST00000698257.1:n.977G>A | ||
| ENST00000698258.1:n.694G>A | ||
| ENST00000698259.1:n.460G>A | ||
| ENST00000265686.8:c.1559G>A MANE Select | ENSP00000265686.3:p.Trp520Ter | |
| ENST00000265686.7:c.1559G>A | ENSP00000265686.3:p.Trp520Ter | |
| ENST00000525724.5:n.871G>A | ||
| ENST00000528981.5:c.711G>A | ||
| ENST00000532635.5:c.911G>A | ENSP00000434407.1:p.Trp304Ter | |
| ENST00000533005.5:n.672G>A | ||
| NM_006019.3:c.1559G>A | NP_006010.2:p.Trp520Ter | |
| NM_006053.3:c.911G>A | NP_006044.1:p.Trp304Ter | |
| XM_005273709.2:c.1559G>A | XP_005273766.1:p.Trp520Ter | |
| XM_011544726.1:c.1559G>A | XP_011543028.1:p.Trp520Ter | |
| XM_011544727.1:c.1559G>A | XP_011543029.1:p.Trp520Ter | |
| XM_011544728.1:c.1559G>A | XP_011543030.1:p.Trp520Ter | |
| XR_949754.1:n.1563G>A | ||
| NM_001351059.1:c.665G>A | NP_001337988.1:p.Trp222Ter | |
| XM_024448320.1:c.1652G>A | XP_024304088.1:p.Trp551Ter | |
| XM_024448321.1:c.1652G>A | XP_024304089.1:p.Trp551Ter | |
| XM_024448322.1:c.1652G>A | XP_024304090.1:p.Trp551Ter | |
| XM_024448323.1:c.1652G>A | XP_024304091.1:p.Trp551Ter | |
| XM_024448324.1:c.1652G>A | XP_024304092.1:p.Trp551Ter | |
| XR_001747721.2:n.1683G>A | ||
| XR_001747722.1:n.1696G>A | ||
| XR_001747723.2:n.1696G>A | ||
| XR_002957115.1:n.1774G>A | ||
| NM_006019.4:c.1559G>A MANE Select | NP_006010.2:p.Trp520Ter | |
| NM_001351059.2:c.665G>A | NP_001337988.1:p.Trp222Ter | |
| NM_006053.4:c.911G>A | NP_006044.1:p.Trp304Ter |