Linked Data
ClinVar Variation Id:
426340
ClinVar RCV Id:
RCV000489228
dbSNP Id:
rs1085307575
gnomAD v3:
5-6611050-C-T
gnomAD v4:
5-6611050-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6611050C>T , CM000667.2:g.6611050C>T | GRCh38 |
| NC_000005.9:g.6611163C>T , CM000667.1:g.6611163C>T | GRCh37 |
| NC_000005.8:g.6664163C>T | NCBI36 |
| NG_028215.1:g.27311G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264670.11:c.1131G>A MANE Select | ENSP00000264670.6:p.Trp377Ter | |
| ENST00000264670.10:c.1131G>A | ENSP00000264670.6:p.Trp377Ter | |
| ENST00000504374.5:c.*437G>A | ENSP00000421783.1:n.*437G>A | |
| ENST00000505892.5:n.1700G>A | ||
| ENST00000506139.5:c.1026G>A | ENSP00000420957.1:p.Trp342Ter | |
| NM_001193455.1:c.1026G>A | NP_001180384.1:p.Trp342Ter | |
| NM_017755.5:c.1131G>A | NP_060225.4:p.Trp377Ter | |
| NR_037947.1:n.1427G>A | ||
| NM_017755.6:c.1131G>A MANE Select | NP_060225.4:p.Trp377Ter | |
| NM_001193455.2:c.1026G>A | NP_001180384.1:p.Trp342Ter | |
| NR_037947.2:n.1111G>A |