Linked Data
dbSNP Id:
rs1402400979
gnomAD v2:
22-29708924-A-C
gnomAD v3:
22-29312935-A-C
gnomAD v4:
22-29312935-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29312935A>C , CM000684.2:g.29312935A>C | GRCh38 |
| NC_000022.10:g.29708924A>C , CM000684.1:g.29708924A>C | GRCh37 |
| NC_000022.9:g.28038924A>C | NCBI36 |
| NG_032959.1:g.10929A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216101.7:c.*366T>G MANE Select | ENSP00000216101.6:n.*366T>G | |
| ENST00000216101.6:c.*366T>G | ENSP00000216101.6:n.*366T>G | |
| ENST00000401450.3:c.*924T>G | ENSP00000386095.3:n.*924T>G | |
| NM_006477.4:c.*366T>G | NP_006468.1:n.*366T>G | |
| XM_011529821.1:c.*366T>G | XP_011528123.1:n.*366T>G | |
| XM_011529822.1:c.*366T>G | XP_011528124.1:n.*366T>G | |
| XM_011529823.1:c.*366T>G | XP_011528125.1:n.*366T>G | |
| NM_006477.5:c.*366T>G MANE Select | NP_006468.1:n.*366T>G |