Linked Data
ClinVar Variation Id:
2634406
dbSNP Id:
rs201295238
ExAC:
2:24477250 T / C
gnomAD v2:
2-24477250-T-C
gnomAD v3:
2-24254381-T-C
gnomAD v4:
2-24254381-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24254381T>C , CM000664.2:g.24254381T>C | GRCh38 |
| NC_000002.11:g.24477250T>C , CM000664.1:g.24477250T>C | GRCh37 |
| NC_000002.10:g.24330754T>C | NCBI36 |
| NG_029516.1:g.111148A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.2939A>G MANE Select | ENSP00000347244.4:p.Tyr980Cys | |
| ENST00000355123.8:c.2939A>G | ENSP00000347244.4:p.Tyr980Cys | |
| ENST00000361999.7:c.2858A>G | ENSP00000354561.2:p.Tyr953Cys | |
| ENST00000406921.7:c.2939A>G | ENSP00000384499.3:p.Tyr980Cys | |
| ENST00000622089.4:c.2888A>G | ENSP00000479408.1:p.Tyr963Cys | |
| NM_006277.2:c.2939A>G | NP_006268.2:p.Tyr980Cys | |
| NM_019595.3:c.2858A>G | NP_062541.3:p.Tyr953Cys | |
| NM_147152.2:c.2939A>G | NP_671494.2:p.Tyr980Cys | |
| NM_001348181.1:c.2897A>G | NP_001335110.1:p.Tyr966Cys | |
| NM_001348182.1:c.2819A>G | NP_001335111.1:p.Tyr940Cys | |
| NM_001348183.1:c.2858A>G | NP_001335112.1:p.Tyr953Cys | |
| NM_001348184.1:c.2816A>G | NP_001335113.1:p.Tyr939Cys | |
| NM_001348185.1:c.2900A>G | NP_001335114.1:p.Tyr967Cys | |
| NM_001348186.1:c.2819A>G | NP_001335115.1:p.Tyr940Cys | |
| XM_024452930.1:c.2939A>G | XP_024308698.1:p.Tyr980Cys | |
| XM_024452931.1:c.2939A>G | XP_024308699.1:p.Tyr980Cys | |
| XM_024452932.1:c.2897A>G | XP_024308700.1:p.Tyr966Cys | |
| XM_024452933.1:c.2900A>G | XP_024308701.1:p.Tyr967Cys | |
| XM_024452934.1:c.2858A>G | XP_024308702.1:p.Tyr953Cys | |
| XM_024452935.1:c.2816A>G | XP_024308703.1:p.Tyr939Cys | |
| XM_024452936.1:c.2897A>G | XP_024308704.1:p.Tyr966Cys | |
| XM_024452937.1:c.635A>G | XP_024308705.1:p.Tyr212Cys | |
| XR_002959302.1:n.2927A>G | ||
| NM_001348181.2:c.2897A>G | NP_001335110.1:p.Tyr966Cys | |
| NM_001348182.2:c.2819A>G | NP_001335111.1:p.Tyr940Cys | |
| NM_001348183.2:c.2858A>G | NP_001335112.1:p.Tyr953Cys | |
| NM_001348184.2:c.2816A>G | NP_001335113.1:p.Tyr939Cys | |
| NM_001348185.2:c.2900A>G | NP_001335114.1:p.Tyr967Cys | |
| NM_001348186.2:c.2819A>G | NP_001335115.1:p.Tyr940Cys | |
| NM_006277.3:c.2939A>G MANE Select | NP_006268.2:p.Tyr980Cys | |
| NM_019595.4:c.2858A>G | NP_062541.3:p.Tyr953Cys | |
| NM_147152.3:c.2939A>G | NP_671494.2:p.Tyr980Cys |