Linked Data
ClinVar Variation Id:
458588
ClinVar RCV Id:
RCV000546671
dbSNP Id:
rs1554167673
gnomAD v4:
6-51632618-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51632618C>T , CM000668.2:g.51632618C>T | GRCh38 |
| NC_000006.11:g.51497416C>T , CM000668.1:g.51497416C>T | GRCh37 |
| NC_000006.10:g.51605375C>T | NCBI36 |
| NG_008753.1:g.460008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11612G>A MANE Select | ENSP00000360158.3:p.Trp3871Ter | |
| ENST00000371117.7:c.11612G>A | ENSP00000360158.3:p.Trp3871Ter | |
| NM_138694.3:c.11612G>A | NP_619639.3:p.Trp3871Ter | |
| XM_011514679.1:c.11612G>A | XP_011512981.1:p.Trp3871Ter | |
| XM_011514680.1:c.11612G>A | XP_011512982.1:p.Trp3871Ter | |
| XM_011514681.1:c.11483G>A | XP_011512983.1:p.Trp3828Ter | |
| XM_011514682.1:c.11474G>A | XP_011512984.1:p.Trp3825Ter | |
| XM_011514683.1:c.10970G>A | XP_011512985.1:p.Trp3657Ter | |
| XM_011514684.1:c.10901G>A | XP_011512986.1:p.Trp3634Ter | |
| XM_011514690.1:c.5687G>A | XP_011512992.1:p.Trp1896Ter | |
| XM_011514691.1:c.5687G>A | XP_011512993.1:p.Trp1896Ter | |
| XM_011514680.3:c.11612G>A | XP_011512982.1:p.Trp3871Ter | |
| XM_011514682.3:c.11474G>A | XP_011512984.1:p.Trp3825Ter | |
| XM_011514683.3:c.10970G>A | XP_011512985.1:p.Trp3657Ter | |
| XM_011514684.3:c.10901G>A | XP_011512986.1:p.Trp3634Ter | |
| XM_011514690.3:c.5687G>A | XP_011512992.1:p.Trp1896Ter | |
| XM_011514691.3:c.5687G>A | XP_011512993.1:p.Trp1896Ter | |
| XM_017010944.2:c.11612G>A | XP_016866433.1:p.Trp3871Ter | |
| XM_017010945.2:c.11537G>A | XP_016866434.1:p.Trp3846Ter | |
| XM_017010946.2:c.11417G>A | XP_016866435.1:p.Trp3806Ter | |
| XM_017010947.2:c.11348G>A | XP_016866436.1:p.Trp3783Ter | |
| XM_017010948.2:c.10901G>A | XP_016866437.1:p.Trp3634Ter | |
| XM_017010949.2:c.9752G>A | XP_016866438.1:p.Trp3251Ter | |
| NM_138694.4:c.11612G>A MANE Select | NP_619639.3:p.Trp3871Ter |