Linked Data
dbSNP Id:
rs540649529
gnomAD v2:
6-34730224-G-T
gnomAD v3:
6-34762447-G-T
gnomAD v4:
6-34762447-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762447G>T , CM000668.2:g.34762447G>T | GRCh38 |
| NC_000006.11:g.34730224G>T , CM000668.1:g.34730224G>T | GRCh37 |
| NC_000006.10:g.34838202G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.52-148G>T MANE Select | ENSP00000244520.5:n.52-148G>T | |
| ENST00000244520.9:c.52-148G>T | ENSP00000244520.5:n.52-148G>T | |
| ENST00000374017.3:c.115-148G>T | ENSP00000363129.3:n.115-148G>T | |
| ENST00000374018.5:c.-72-148G>T | ENSP00000363130.1:n.-72-148G>T | |
| ENST00000474635.1:n.44-148G>T | ||
| NM_003093.2:c.52-148G>T | NP_003084.1:n.52-148G>T | |
| NR_029472.1:n.459-148G>T | ||
| NM_003093.3:c.52-148G>T MANE Select | NP_003084.1:n.52-148G>T | |
| NR_029472.2:n.48-148G>T |