Linked Data
dbSNP Id:
rs3804047
gnomAD v2:
22-19879637-A-G
gnomAD v3:
22-19892114-A-G
gnomAD v4:
22-19892114-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19892114A>G , CM000684.2:g.19892114A>G | GRCh38 |
| NC_000022.10:g.19879637A>G , CM000684.1:g.19879637A>G | GRCh37 |
| NC_000022.9:g.18259637A>G | NCBI36 |
| NG_011835.1:g.54723T>C , LRG_417:g.54723T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.949+3293T>C MANE Select | ENSP00000383365.1:n.949+3293T>C | |
| ENST00000400518.5:c.859+3293T>C | ENSP00000383362.1:n.859+3293T>C | |
| ENST00000400519.6:c.946+3293T>C | ENSP00000383363.1:n.946+3293T>C | |
| ENST00000400521.6:c.949+3293T>C | ENSP00000383365.1:n.949+3293T>C | |
| ENST00000400525.6:c.880+3293T>C | ENSP00000383369.3:n.880+3293T>C | |
| ENST00000474308.5:c.892+3293T>C | ENSP00000485665.1:n.892+3293T>C | |
| ENST00000494454.5:n.1023+3293T>C | ||
| ENST00000542719.6:c.661+3293T>C | ENSP00000485128.2:n.661+3293T>C | |
| ENST00000634537.1:c.178+3293T>C | ENSP00000489208.1:n.178+3293T>C | |
| ENST00000635155.1:n.536-354T>C | ||
| NM_006440.4:c.949+3293T>C | NP_006431.2:n.949+3293T>C | |
| NM_001352300.1:c.946+3293T>C | NP_001339229.1:n.946+3293T>C | |
| NM_001352301.1:c.859+3293T>C | NP_001339230.1:n.859+3293T>C | |
| NM_001352302.1:c.661+3293T>C | NP_001339231.1:n.661+3293T>C | |
| NR_147957.1:n.1081+3293T>C | ||
| NM_006440.5:c.949+3293T>C MANE Select | NP_006431.2:n.949+3293T>C | |
| NM_001352300.2:c.946+3293T>C | NP_001339229.1:n.946+3293T>C | |
| NR_147957.2:n.907+3293T>C | ||
| NM_001352301.2:c.859+3293T>C | NP_001339230.1:n.859+3293T>C | |
| NM_001352302.2:c.661+3293T>C | NP_001339231.1:n.661+3293T>C |