Linked Data
dbSNP Id:
rs11574311
gnomAD v2:
8-30976660-T-C
gnomAD v3:
8-31119144-T-C
gnomAD v4:
8-31119144-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31119144T>C , CM000670.2:g.31119144T>C | GRCh38 |
| NC_000008.10:g.30976660T>C , CM000670.1:g.30976660T>C | GRCh37 |
| NC_000008.9:g.31096202T>C | NCBI36 |
| NG_008870.1:g.90883T>C , LRG_524:g.90883T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298139.7:c.2449-1099T>C MANE Select | ENSP00000298139.5:n.2449-1099T>C | |
| ENST00000650667.1:c.*2063-1099T>C | ENSP00000498593.1:n.*2063-1099T>C | |
| ENST00000298139.5:c.2449-1099T>C | ENSP00000298139.5:n.2449-1099T>C | |
| ENST00000521620.5:n.1082-1099T>C | ||
| NM_000553.4:c.2449-1099T>C , LRG_524t1:c.2449-1099T>C | NP_000544.2:n.2449-1099T>C | |
| XM_011544639.1:c.2368-1099T>C | XP_011542941.1:n.2368-1099T>C | |
| XM_011544640.1:c.850-1099T>C | XP_011542942.1:n.850-1099T>C | |
| XR_949470.1:n.2722-1099T>C | ||
| XR_949471.1:n.2722-1099T>C | ||
| XR_949472.1:n.2722-1099T>C | ||
| NM_000553.5:c.2449-1099T>C | NP_000544.2:n.2449-1099T>C | |
| XM_011544639.3:c.2368-1099T>C | XP_011542941.1:n.2368-1099T>C | |
| XM_024447265.1:c.2239-1099T>C | XP_024303033.1:n.2239-1099T>C | |
| XR_949470.3:n.2750-1099T>C | ||
| XR_949471.3:n.2750-1099T>C | ||
| XR_949472.3:n.2750-1099T>C | ||
| NM_000553.6:c.2449-1099T>C MANE Select | NP_000544.2:n.2449-1099T>C |