Linked Data
dbSNP Id:
rs1555211220
gnomAD v2:
10-48389408-G-C
gnomAD v4:
10-47349954-C-G
MyVariant Identifiers:
chr10:g.48389408G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349954C>G , CM000672.2:g.47349954C>G | GRCh38 |
| NC_000010.10:g.48389408G>C , CM000672.1:g.48389408G>C | GRCh37 |
| NC_000010.9:g.48009414G>C | NCBI36 |
| NG_029718.1:g.6584C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1470C>G MANE Select | ENSP00000463151.1:p.Pro490= | |
| ENST00000584701.1:c.1470C>G | ENSP00000463151.1:p.Pro490= | |
| NM_002900.2:c.1470C>G | NP_002891.1:p.Pro490= | |
| NM_002900.3:c.1470C>G MANE Select | NP_002891.1:p.Pro490= |