Linked Data
dbSNP Id:
rs1317870876
gnomAD v2:
11-46849367-A-C
gnomAD v3:
11-46827816-A-C
gnomAD v4:
11-46827816-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46827816A>C , CM000673.2:g.46827816A>C | GRCh38 |
| NC_000011.9:g.46849367A>C , CM000673.1:g.46849367A>C | GRCh37 |
| NC_000011.8:g.46805943A>C | NCBI36 |
| NG_029924.1:g.23493T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529230.6:c.-37-6548T>G MANE Select | ENSP00000432768.1:n.-37-6548T>G | |
| ENST00000312055.9:c.-37-6548T>G | ENSP00000310227.5:n.-37-6548T>G | |
| ENST00000525248.1:n.78-6568T>G | ||
| ENST00000529230.5:c.-37-6548T>G | ENSP00000432768.1:n.-37-6548T>G | |
| NM_001008938.3:c.-37-6548T>G | NP_001008938.1:n.-37-6548T>G | |
| NM_014756.3:c.-37-6548T>G | NP_055571.2:n.-37-6548T>G | |
| NM_001008938.4:c.-37-6548T>G MANE Select | NP_001008938.1:n.-37-6548T>G | |
| NM_014756.4:c.-37-6548T>G | NP_055571.2:n.-37-6548T>G |