Linked Data
ClinVar Variation Id:
794970
ClinVar RCV Id:
RCV000978268
dbSNP Id:
rs104894134
gnomAD v2:
9-100451857-A-G
gnomAD v4:
9-97689575-A-G
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97689575A>G , CM000671.2:g.97689575A>G | GRCh38 |
| NC_000009.11:g.100451857A>G , CM000671.1:g.100451857A>G | GRCh37 |
| NC_000009.10:g.99491678A>G | NCBI36 |
| NG_011642.1:g.12835T>C , LRG_471:g.12835T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375128.5:c.348T>C MANE Select | ENSP00000364270.5:p.Tyr116= | |
| ENST00000375128.4:c.348T>C | ENSP00000364270.4:p.Tyr116= | |
| ENST00000462523.5:c.348T>C | ENSP00000433006.1:p.Tyr116= | |
| ENST00000496104.1:n.184-2314T>C | ||
| NM_000380.3:c.348T>C , LRG_471t1:c.348T>C | NP_000371.1:p.Tyr116= | |
| NR_027302.1:n.465T>C | ||
| XM_006717278.1:c.348T>C | XP_006717341.1:p.Tyr116= | |
| XM_011518988.1:c.348T>C | XP_011517290.1:p.Tyr116= | |
| XR_929839.1:n.459T>C | ||
| NM_001354975.1:c.222T>C | NP_001341904.1:p.Tyr74= | |
| NR_149091.1:n.400+4074T>C | ||
| NR_149092.1:n.401-2314T>C | ||
| NR_149093.1:n.465T>C | ||
| NR_149094.1:n.401-2314T>C | ||
| NM_000380.4:c.348T>C MANE Select | NP_000371.1:p.Tyr116= | |
| NM_001354975.2:c.222T>C | NP_001341904.1:p.Tyr74= | |
| NR_027302.2:n.396T>C | ||
| NR_149091.2:n.331+4074T>C | ||
| NR_149092.2:n.332-2314T>C | ||
| NR_149093.2:n.396T>C | ||
| NR_149094.2:n.332-2314T>C |