Linked Data
dbSNP Id:
rs116283733
gnomAD v2:
1-11033054-C-T
gnomAD v3:
1-10972997-C-T
gnomAD v4:
1-10972997-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10972997C>T , CM000663.2:g.10972997C>T | GRCh38 |
| NC_000001.10:g.11033054C>T , CM000663.1:g.11033054C>T | GRCh37 |
| NC_000001.9:g.10955641C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377004.9:c.128-2908G>A MANE Select | ENSP00000366203.4:n.128-2908G>A | |
| ENST00000377004.8:c.128-2908G>A | ENSP00000366203.4:n.128-2908G>A | |
| ENST00000520253.1:c.61-2908G>A | ||
| NM_001170754.1:c.128-2908G>A | NP_001164225.1:n.128-2908G>A | |
| NM_001170754.2:c.128-2908G>A MANE Select | NP_001164225.1:n.128-2908G>A |