Linked Data
ClinVar Variation Id:
393358
ClinVar RCV Id:
RCV000445520
dbSNP Id:
rs1057524878
PubMed:
PMID:27435091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32657766C>T , CM000683.2:g.32657766C>T | GRCh38 |
| NC_000021.8:g.34030076C>T , CM000683.1:g.34030076C>T | GRCh37 |
| NC_000021.7:g.32951947C>T | NCBI36 |
| NG_030017.1:g.75276G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382499.7:c.2528G>A | ENSP00000371939.2:p.Trp843Ter | |
| ENST00000433931.7:c.2528G>A | ENSP00000409667.2:p.Trp843Ter | |
| ENST00000630077.3:c.2396G>A | ENSP00000487560.1:p.Trp799Ter | |
| ENST00000674204.1:c.2411G>A | ENSP00000501504.1:p.Trp804Ter | |
| ENST00000674308.1:c.2411G>A | ENSP00000501426.1:p.Trp804Ter | |
| ENST00000674351.1:c.2411G>A MANE Select | ENSP00000501530.1:p.Trp804Ter | |
| ENST00000357345.7:c.2411G>A | ENSP00000349903.3:p.Trp804Ter | |
| ENST00000382491.7:c.2396G>A | ENSP00000371931.4:p.Trp799Ter | |
| ENST00000382499.6:c.2528G>A | ENSP00000371939.2:p.Trp843Ter | |
| ENST00000433931.6:c.2528G>A | ENSP00000409667.2:p.Trp843Ter | |
| ENST00000464778.1:n.198G>A | ||
| ENST00000630077.2:c.2396G>A | ENSP00000487560.1:p.Trp799Ter | |
| NM_001160302.1:c.2411G>A | NP_001153774.1:p.Trp804Ter | |
| NM_001160306.1:c.2396G>A | NP_001153778.1:p.Trp799Ter | |
| NM_003895.3:c.2528G>A | NP_003886.3:p.Trp843Ter | |
| NM_203446.2:c.2528G>A | NP_982271.2:p.Trp843Ter | |
| XM_017028494.1:c.2411G>A | XP_016883983.1:p.Trp804Ter | |
| XM_017028495.2:c.2513G>A | XP_016883984.1:p.Trp838Ter | |
| XM_017028496.1:c.2411G>A | XP_016883985.1:p.Trp804Ter | |
| XM_017028497.2:c.2528G>A | XP_016883986.1:p.Trp843Ter | |
| XM_017028498.1:c.2411G>A | XP_016883987.1:p.Trp804Ter | |
| XM_017028499.2:c.2513G>A | XP_016883988.1:p.Trp838Ter | |
| XM_017028500.1:c.2411G>A | XP_016883989.1:p.Trp804Ter | |
| XM_017028501.1:c.2411G>A | XP_016883990.1:p.Trp804Ter | |
| XM_017028502.1:c.2411G>A | XP_016883991.1:p.Trp804Ter | |
| XM_017028503.1:c.2411G>A | XP_016883992.1:p.Trp804Ter | |
| XM_017028504.1:c.2411G>A | XP_016883993.1:p.Trp804Ter | |
| XM_017028505.2:c.2513G>A | XP_016883994.1:p.Trp838Ter | |
| NM_001160306.2:c.2396G>A | NP_001153778.1:p.Trp799Ter | |
| NM_203446.3:c.2411G>A MANE Select | NP_982271.3:p.Trp804Ter |