Linked Data
ClinVar Variation Id:
438646
ClinVar RCV Id:
RCV000505544
dbSNP Id:
rs1554174425
gnomAD v4:
6-49618113-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49618113A>C , CM000668.2:g.49618113A>C | GRCh38 |
| NC_000006.11:g.49585826A>C , CM000668.1:g.49585826A>C | GRCh37 |
| NC_000006.10:g.49693785A>C | NCBI36 |
| NG_011704.1:g.23762T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.447T>G MANE Select | ENSP00000360217.4:p.Ile149Met | |
| ENST00000642530.1:n.722T>G | ||
| ENST00000646272.1:c.447T>G | ENSP00000494337.1:p.Ile149Met | |
| ENST00000646939.1:c.447T>G | ENSP00000494709.1:p.Ile149Met | |
| ENST00000646963.1:c.447T>G | ENSP00000495337.1:p.Ile149Met | |
| ENST00000229810.9:c.447T>G | ENSP00000229810.8:p.Ile149Met | |
| ENST00000371175.8:c.447T>G | ENSP00000360217.4:p.Ile149Met | |
| ENST00000618248.3:c.447T>G | ENSP00000482984.1:p.Ile149Met | |
| NM_000324.2:c.447T>G | NP_000315.2:p.Ile149Met | |
| XM_011514788.1:c.447T>G | XP_011513090.1:p.Ile149Met | |
| NM_000324.3:c.447T>G MANE Select | NP_000315.2:p.Ile149Met |