Linked Data
dbSNP Id:
rs888997242
gnomAD v2:
1-11033056-G-A
gnomAD v3:
1-10972999-G-A
gnomAD v4:
1-10972999-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10972999G>A , CM000663.2:g.10972999G>A | GRCh38 |
| NC_000001.10:g.11033056G>A , CM000663.1:g.11033056G>A | GRCh37 |
| NC_000001.9:g.10955643G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377004.9:c.128-2910C>T MANE Select | ENSP00000366203.4:n.128-2910C>T | |
| ENST00000377004.8:c.128-2910C>T | ENSP00000366203.4:n.128-2910C>T | |
| ENST00000520253.1:c.61-2910C>T | ||
| NM_001170754.1:c.128-2910C>T | NP_001164225.1:n.128-2910C>T | |
| NM_001170754.2:c.128-2910C>T MANE Select | NP_001164225.1:n.128-2910C>T |