Linked Data
ClinVar Variation Id:
3019003
ClinVar RCV Id:
RCV003871634
dbSNP Id:
rs905762039
gnomAD v2:
7-21920485-T-C
gnomAD v3:
7-21880867-T-C
gnomAD v4:
7-21880867-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880867T>C , CM000669.2:g.21880867T>C | GRCh38 |
| NC_000007.13:g.21920485T>C , CM000669.1:g.21920485T>C | GRCh37 |
| NC_000007.12:g.21887010T>C | NCBI36 |
| NG_012886.2:g.342653T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12361T>C MANE Select | ENSP00000475939.1:p.Tyr4121His | |
| ENST00000328843.10:c.12382T>C | ENSP00000330671.7:p.Tyr4128His | |
| ENST00000409508.7:c.12361T>C | ENSP00000475939.1:p.Tyr4121His | |
| ENST00000620169.4:c.12382T>C | ENSP00000481693.1:p.Tyr4128His | |
| NM_001277115.1:c.12361T>C | NP_001264044.1:p.Tyr4121His | |
| NM_001277115.2:c.12361T>C MANE Select | NP_001264044.1:p.Tyr4121His |