Linked Data
dbSNP Id:
rs1437839548
gnomAD v2:
10-124793858-T-C
gnomAD v3:
10-123034342-T-C
gnomAD v4:
10-123034342-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034342T>C , CM000672.2:g.123034342T>C | GRCh38 |
| NC_000010.10:g.124793858T>C , CM000672.1:g.124793858T>C | GRCh37 |
| NC_000010.9:g.124783848T>C | NCBI36 |
| NG_008003.1:g.30430T>C , LRG_451:g.30430T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.43-14T>C MANE Select | ENSP00000357873.3:n.43-14T>C | |
| ENST00000358776.6:c.43-14T>C | ENSP00000357873.3:n.43-14T>C | |
| ENST00000368869.8:c.-163-14T>C | ENSP00000357862.4:n.-163-14T>C | |
| ENST00000411816.2:n.60-14T>C | ||
| NM_001609.3:c.43-14T>C , LRG_451t1:c.43-14T>C | NP_001600.1:n.43-14T>C | |
| NM_001330174.1:c.-163-14T>C | NP_001317103.1:n.-163-14T>C | |
| NM_001330174.2:c.-163-14T>C | NP_001317103.1:n.-163-14T>C | |
| NM_001609.4:c.43-14T>C MANE Select | NP_001600.1:n.43-14T>C | |
| NM_001330174.3:c.-163-14T>C | NP_001317103.1:n.-163-14T>C |