Linked Data
ClinVar Variation Id:
1260628
ClinVar RCV Id:
RCV001669445
dbSNP Id:
rs2071287
gnomAD v2:
6-32170433-C-T
gnomAD v3:
6-32202656-C-T
gnomAD v4:
6-32202656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202656C>T , CM000668.2:g.32202656C>T | GRCh38 |
| NC_000006.11:g.32170433C>T , CM000668.1:g.32170433C>T | GRCh37 |
| NC_000006.10:g.32278411C>T | NCBI36 |
| NG_028190.1:g.26412G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375023.3:c.3232-57G>A MANE Select | ENSP00000364163.3:n.3232-57G>A | |
| ENST00000474612.1:n.1261G>A | ||
| NM_004557.3:c.3232-57G>A | NP_004548.3:n.3232-57G>A | |
| NR_134949.1:n.3472+1114G>A | ||
| NR_134950.1:n.3370+1114G>A | ||
| NM_004557.4:c.3232-57G>A MANE Select | NP_004548.3:n.3232-57G>A | |
| NR_134949.2:n.3472+1114G>A | ||
| NR_134950.2:n.3370+1114G>A |