Linked Data
ClinVar Variation Id:
373035
dbSNP Id:
rs965707319
gnomAD v2:
4-5699339-G-T
gnomAD v3:
4-5697612-G-T
gnomAD v4:
4-5697612-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5697612G>T , CM000666.2:g.5697612G>T | GRCh38 |
| NC_000004.11:g.5699339G>T , CM000666.1:g.5699339G>T | GRCh37 |
| NC_000004.10:g.5750240G>T | NCBI36 |
| NG_015821.1:g.16937C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.264C>A MANE Select | ENSP00000342144.5:p.Cys88Ter | |
| ENST00000310917.6:c.24C>A | ENSP00000311683.2:p.Cys8Ter | |
| ENST00000344408.9:c.264C>A | ENSP00000342144.5:p.Cys88Ter | |
| ENST00000475313.5:c.24C>A | ENSP00000431981.1:p.Cys8Ter | |
| ENST00000509670.1:c.24C>A | ENSP00000423876.1:p.Cys8Ter | |
| NM_001166136.1:c.24C>A | NP_001159608.1:p.Cys8Ter | |
| NM_147127.4:c.264C>A | NP_667338.3:p.Cys88Ter | |
| XM_011513392.1:c.264C>A | XP_011511694.1:p.Cys88Ter | |
| XM_011513393.1:c.264C>A | XP_011511695.1:p.Cys88Ter | |
| XM_011513394.1:c.24C>A | XP_011511696.1:p.Cys8Ter | |
| XM_017007736.1:c.24C>A | XP_016863225.1:p.Cys8Ter | |
| XM_017007737.1:c.24C>A | XP_016863226.1:p.Cys8Ter | |
| XM_017007738.1:c.264C>A | XP_016863227.1:p.Cys88Ter | |
| XM_017007739.1:c.-1409C>A | XP_016863228.1:n.-1409C>A | |
| XM_024453893.1:c.-1513C>A | XP_024309661.1:n.-1513C>A | |
| XR_001741141.1:n.329C>A | ||
| NM_147127.5:c.264C>A MANE Select | NP_667338.3:p.Cys88Ter | |
| NM_001166136.2:c.24C>A | NP_001159608.1:p.Cys8Ter |