Linked Data
ClinVar Variation Id:
435414
ClinVar RCV Id:
RCV000500181
dbSNP Id:
rs1453919511
gnomAD v3:
5-74713512-T-C
gnomAD v4:
5-74713512-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713512T>C , CM000667.2:g.74713512T>C | GRCh38 |
| NC_000005.9:g.74009337T>C , CM000667.1:g.74009337T>C | GRCh37 |
| NC_000005.8:g.74045093T>C | NCBI36 |
| NG_009770.1:g.33369T>C | |
| NG_009770.2:g.78490T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.778T>C MANE Select | ENSP00000261416.7:p.Tyr260His | |
| ENST00000261416.11:c.778T>C | ENSP00000261416.7:p.Tyr260His | |
| ENST00000511181.5:c.103T>C | ENSP00000426285.1:p.Tyr35His | |
| NM_000521.3:c.778T>C | NP_000512.1:p.Tyr260His | |
| NM_001292004.1:c.103T>C | NP_001278933.1:p.Tyr35His | |
| NM_000521.4:c.778T>C MANE Select | NP_000512.2:p.Tyr260His | |
| NM_001292004.2:c.103T>C | NP_001278933.1:p.Tyr35His |