Linked Data
ClinVar Variation Id:
242487
ClinVar RCV Id:
RCV000200681
dbSNP Id:
rs863224931
gnomAD v4:
16-2499864-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2499864G>C , CM000678.2:g.2499864G>C | GRCh38 |
| NC_000016.9:g.2549865G>C , CM000678.1:g.2549865G>C | GRCh37 |
| NC_000016.8:g.2489866G>C | NCBI36 |
| NG_028170.1:g.29719G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000562105.2:c.1236G>C | ENSP00000457896.2:p.Trp412Cys | |
| ENST00000567020.6:c.1218G>C | ENSP00000454408.1:p.Trp406Cys | |
| ENST00000569874.2:c.1218G>C | ENSP00000455005.2:p.Trp406Cys | |
| ENST00000643767.1:c.1218G>C | ENSP00000494145.1:p.Trp406Cys | |
| ENST00000646147.1:c.1236G>C MANE Select | ENSP00000494678.1:p.Trp412Cys | |
| ENST00000293970.9:c.1236G>C | ENSP00000293970.5:p.Trp412Cys | |
| ENST00000564543.1:c.965+2751G>C | ENSP00000455547.1:n.965+2751G>C | |
| ENST00000564879.2:c.105G>C | ||
| ENST00000567020.5:c.1218G>C | ENSP00000454408.1:p.Trp406Cys | |
| ENST00000627285.1:c.1218G>C | ENSP00000486121.1:p.Trp406Cys | |
| ENST00000630263.2:c.*194G>C | ENSP00000486835.1:n.*194G>C | |
| NM_001199107.1:c.1236G>C | NP_001186036.1:p.Trp412Cys | |
| NM_020705.2:c.1218G>C | NP_065756.1:p.Trp406Cys | |
| XM_017023493.1:c.1236G>C | XP_016878982.1:p.Trp412Cys | |
| XM_017023494.1:c.1218G>C | XP_016878983.1:p.Trp406Cys | |
| XM_017023495.1:c.1218G>C | XP_016878984.1:p.Trp406Cys | |
| XR_001751956.1:n.1418G>C | ||
| NM_001199107.2:c.1236G>C MANE Select | NP_001186036.1:p.Trp412Cys | |
| NM_020705.3:c.1218G>C | NP_065756.1:p.Trp406Cys |