Linked Data
dbSNP Id:
rs1025746654
gnomAD v3:
10-87967950-G-C
gnomAD v4:
10-87967950-G-C
MyVariant Identifiers:
chr10:g.87967950G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87967950G>C , CM000672.2:g.87967950G>C | GRCh38 |
| NC_000010.10:g.89727707G>C , CM000672.1:g.89727707G>C | GRCh37 |
| NC_000010.9:g.89717687G>C | NCBI36 |
| NG_007466.2:g.109512G>C , LRG_311:g.109512G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710265.1:c.*2719G>C | ENSP00000518161.1:n.*2719G>C | |
| ENST00000688158.2:n.4425G>C | ||
| ENST00000706954.1:c.*2478G>C | ENSP00000516674.1:n.*2478G>C | |
| ENST00000706955.1:c.*3725G>C | ENSP00000516675.1:n.*3725G>C | |
| ENST00000688158.1:c.*3801G>C | ENSP00000509254.1:n.*3801G>C | |
| ENST00000693560.1:c.*2478G>C | ENSP00000509861.1:n.*2478G>C | |
| ENST00000371953.8:c.*2478G>C MANE Select | ENSP00000361021.3:n.*2478G>C | |
| ENST00000371953.7:c.*2478G>C | ENSP00000361021.3:n.*2478G>C | |
| NM_000314.5:c.*2478G>C | NP_000305.3:n.*2478G>C | |
| NM_000314.6:c.*2478G>C | NP_000305.3:n.*2478G>C | |
| NM_001304717.2:c.*2478G>C | NP_001291646.2:n.*2478G>C | |
| NM_001304718.1:c.*2478G>C | NP_001291647.1:n.*2478G>C | |
| XM_006717926.2:c.*2478G>C | XP_006717989.1:n.*2478G>C | |
| XM_011539982.1:c.*2478G>C | XP_011538284.1:n.*2478G>C | |
| XR_945791.1:n.4260G>C | ||
| NM_000314.7:c.*2478G>C | NP_000305.3:n.*2478G>C | |
| NM_001304717.5:c.*2478G>C | NP_001291646.4:n.*2478G>C | |
| NM_001304718.2:c.*2478G>C | NP_001291647.1:n.*2478G>C | |
| NM_000314.8:c.*2478G>C MANE Select | NP_000305.3:n.*2478G>C |