Linked Data
dbSNP Id:
rs548551972
gnomAD v2:
10-115330837-G-T
gnomAD v3:
10-113571078-G-T
gnomAD v4:
10-113571078-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113571078G>T , CM000672.2:g.113571078G>T | GRCh38 |
| NC_000010.10:g.115330837G>T , CM000672.1:g.115330837G>T | GRCh37 |
| NC_000010.9:g.115320827G>T | NCBI36 |
| NG_008956.1:g.23060G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.107-3211G>T MANE Select | ENSP00000277903.4:n.107-3211G>T | |
| ENST00000351270.3:c.107-3211G>T | ENSP00000277903.4:n.107-3211G>T | |
| ENST00000542051.5:c.29-3211G>T | ENSP00000443283.1:n.29-3211G>T | |
| NM_001177660.1:c.29-3211G>T | NP_001171131.1:n.29-3211G>T | |
| NM_004132.3:c.107-3211G>T | NP_004123.1:n.107-3211G>T | |
| NM_001177660.2:c.29-3211G>T | NP_001171131.1:n.29-3211G>T | |
| NM_004132.4:c.107-3211G>T | NP_004123.1:n.107-3211G>T | |
| NM_004132.5:c.107-3211G>T MANE Select | NP_004123.1:n.107-3211G>T | |
| NM_001177660.3:c.29-3211G>T | NP_001171131.1:n.29-3211G>T |