Linked Data
dbSNP Id:
rs189353478
gnomAD v2:
11-100905333-T-C
gnomAD v3:
11-101034602-T-C
gnomAD v4:
11-101034602-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101034602T>C , CM000673.2:g.101034602T>C | GRCh38 |
| NC_000011.9:g.100905333T>C , CM000673.1:g.100905333T>C | GRCh37 |
| NC_000011.8:g.100410543T>C | NCBI36 |
| NG_016475.1:g.100212A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.*4514A>G MANE Select | ENSP00000325120.5:n.*4514A>G | |
| ENST00000325455.9:c.*4514A>G | ENSP00000325120.5:n.*4514A>G | |
| NM_000926.4:c.*4514A>G MANE Select | NP_000917.3:n.*4514A>G | |
| NM_001202474.3:c.*4514A>G | NP_001189403.1:n.*4514A>G | |
| NM_001271161.2:c.*4514A>G | NP_001258090.1:n.*4514A>G | |
| NM_001271162.1:c.*4514A>G | NP_001258091.1:n.*4514A>G | |
| NR_073141.2:n.7257A>G | ||
| NR_073142.2:n.7140A>G | ||
| NR_073143.2:n.6872A>G | ||
| NM_001271162.2:c.*4514A>G | NP_001258091.1:n.*4514A>G | |
| NR_073141.3:n.7271A>G | ||
| NR_073142.3:n.7154A>G | ||
| NR_073143.3:n.6886A>G |