Linked Data
dbSNP Id:
rs6585234
gnomAD v2:
10-115330648-T-C
gnomAD v3:
10-113570889-T-C
gnomAD v4:
10-113570889-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113570889T>C , CM000672.2:g.113570889T>C | GRCh38 |
| NC_000010.10:g.115330648T>C , CM000672.1:g.115330648T>C | GRCh37 |
| NC_000010.9:g.115320638T>C | NCBI36 |
| NG_008956.1:g.22871T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351270.4:c.106+3364T>C MANE Select | ENSP00000277903.4:n.106+3364T>C | |
| ENST00000351270.3:c.106+3364T>C | ENSP00000277903.4:n.106+3364T>C | |
| ENST00000542051.5:c.28+3364T>C | ENSP00000443283.1:n.28+3364T>C | |
| NM_001177660.1:c.28+3364T>C | NP_001171131.1:n.28+3364T>C | |
| NM_004132.3:c.106+3364T>C | NP_004123.1:n.106+3364T>C | |
| NM_001177660.2:c.28+3364T>C | NP_001171131.1:n.28+3364T>C | |
| NM_004132.4:c.106+3364T>C | NP_004123.1:n.106+3364T>C | |
| NM_004132.5:c.106+3364T>C MANE Select | NP_004123.1:n.106+3364T>C | |
| NM_001177660.3:c.28+3364T>C | NP_001171131.1:n.28+3364T>C |