Linked Data
dbSNP Id:
rs1555211274
gnomAD v2:
10-48389213-A-G
gnomAD v4:
10-47350149-T-C
MyVariant Identifiers:
chr10:g.48389213A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350149T>C , CM000672.2:g.47350149T>C | GRCh38 |
| NC_000010.10:g.48389213A>G , CM000672.1:g.48389213A>G | GRCh37 |
| NC_000010.9:g.48009219A>G | NCBI36 |
| NG_029718.1:g.6779T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1665T>C MANE Select | ENSP00000463151.1:p.Leu555= | |
| ENST00000584701.1:c.1665T>C | ENSP00000463151.1:p.Leu555= | |
| NM_002900.2:c.1665T>C | NP_002891.1:p.Leu555= | |
| NM_002900.3:c.1665T>C MANE Select | NP_002891.1:p.Leu555= |