Linked Data
ClinVar Variation Id:
4836
ClinVar RCV Id:
RCV003472970
dbSNP Id:
rs111033254
ExAC:
7:107338530 T / C
gnomAD v2:
7-107338530-T-C
gnomAD v3:
7-107698085-T-C
gnomAD v4:
7-107698085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107698085T>C , CM000669.2:g.107698085T>C | GRCh38 |
| NC_000007.13:g.107338530T>C , CM000669.1:g.107338530T>C | GRCh37 |
| NC_000007.12:g.107125766T>C | NCBI36 |
| NG_008489.1:g.42451T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1588T>C MANE Select | ENSP00000494017.1:p.Tyr530His | |
| ENST00000644846.1:c.299T>C | ||
| ENST00000265715.7:c.1588T>C | ENSP00000265715.3:p.Tyr530His | |
| ENST00000477350.5:n.435T>C | ||
| ENST00000480841.5:n.437T>C | ||
| NM_000441.1:c.1588T>C | NP_000432.1:p.Tyr530His | |
| XM_005250425.1:c.1588T>C | XP_005250482.1:p.Tyr530His | |
| XM_005250425.2:c.1588T>C | XP_005250482.1:p.Tyr530His | |
| XM_017012318.1:c.1510T>C | XP_016867807.1:p.Tyr504His | |
| NM_000441.2:c.1588T>C MANE Select | NP_000432.1:p.Tyr530His |