Linked Data
ClinVar Variation Id:
1712090
ClinVar RCV Id:
RCV002293808
dbSNP Id:
rs1031324612
gnomAD v2:
16-28856675-T-C
gnomAD v4:
16-28845354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845354T>C , CM000678.2:g.28845354T>C | GRCh38 |
| NC_000016.9:g.28856675T>C , CM000678.1:g.28856675T>C | GRCh37 |
| NC_000016.8:g.28764176T>C | NCBI36 |
| NG_008964.1:g.6055A>G | |
| NG_029706.2:g.3755T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.374A>G MANE Select | ENSP00000322439.3:p.Tyr125Cys | |
| ENST00000313511.7:c.374A>G | ENSP00000322439.3:p.Tyr125Cys | |
| ENST00000565012.1:c.248-299A>G | ENSP00000455007.1:n.248-299A>G | |
| NM_003321.4:c.374A>G | NP_003312.3:p.Tyr125Cys | |
| XM_011545928.1:c.374A>G | XP_011544230.1:p.Tyr125Cys | |
| NM_001365360.1:c.374A>G | NP_001352289.1:p.Tyr125Cys | |
| NM_003321.5:c.374A>G MANE Select | NP_003312.3:p.Tyr125Cys | |
| NM_001365360.2:c.374A>G | NP_001352289.1:p.Tyr125Cys |