Linked Data
ClinVar Variation Id:
370976
ClinVar RCV Id:
RCV000410279
dbSNP Id:
rs1057516910
gnomAD v2:
6-74325133-C-T
gnomAD v3:
6-73615410-C-T
gnomAD v4:
6-73615410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73615410C>T , CM000668.2:g.73615410C>T | GRCh38 |
| NC_000006.11:g.74325133C>T , CM000668.1:g.74325133C>T | GRCh37 |
| NC_000006.10:g.74381854C>T | NCBI36 |
| NG_008272.1:g.43605G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1016G>A MANE Select | ENSP00000348019.5:p.Trp339Ter | |
| ENST00000355773.5:c.1016G>A | ENSP00000348019.5:p.Trp339Ter | |
| NM_012434.4:c.1016G>A | NP_036566.1:p.Trp339Ter | |
| XM_005248710.2:c.965G>A | XP_005248767.1:p.Trp322Ter | |
| XM_005248711.1:c.818G>A | XP_005248768.1:p.Trp273Ter | |
| XM_011535750.1:c.1016G>A | XP_011534052.1:p.Trp339Ter | |
| NM_012434.5:c.1016G>A MANE Select | NP_036566.1:p.Trp339Ter | |
| NM_001382629.1:c.785G>A | NP_001369558.1:p.Trp262Ter | |
| NM_001382630.1:c.1016G>A | NP_001369559.1:p.Trp339Ter | |
| NM_001382631.1:c.1037G>A | NP_001369560.1:p.Trp346Ter | |
| NM_001382632.1:c.929G>A | NP_001369561.1:p.Trp310Ter | |
| NM_001382633.1:c.1016G>A | NP_001369562.1:p.Trp339Ter | |
| NM_001382634.1:c.857G>A | NP_001369563.1:p.Trp286Ter | |
| NM_001382635.1:c.1013G>A | NP_001369564.1:p.Trp338Ter | |
| NM_001382636.1:c.698G>A | NP_001369565.1:p.Trp233Ter |