Linked Data
dbSNP Id:
rs542176025
gnomAD v2:
16-14042402-T-C
gnomAD v3:
16-13948545-T-C
gnomAD v4:
16-13948545-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948545T>C , CM000678.2:g.13948545T>C | GRCh38 |
| NC_000016.9:g.14042402T>C , CM000678.1:g.14042402T>C | GRCh37 |
| NC_000016.8:g.13949903T>C | NCBI36 |
| NG_011442.1:g.33389T>C , LRG_463:g.33389T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.*198T>C | ENSP00000507912.1:n.*198T>C | |
| ENST00000683962.1:c.*2643T>C | ENSP00000506854.1:n.*2643T>C | |
| ENST00000311895.8:c.*198T>C MANE Select | ENSP00000310520.7:n.*198T>C | |
| ENST00000311895.7:c.*198T>C | ENSP00000310520.7:n.*198T>C | |
| NM_005236.2:c.*198T>C , LRG_463t1:c.*198T>C | NP_005227.1:n.*198T>C | |
| XM_011522424.1:c.*198T>C | XP_011520726.1:n.*198T>C | |
| XM_011522425.1:c.*198T>C | XP_011520727.1:n.*198T>C | |
| XM_011522426.1:c.*198T>C | XP_011520728.1:n.*198T>C | |
| XM_011522427.1:c.*198T>C | XP_011520729.1:n.*198T>C | |
| XR_932805.1:n.3073+35T>C | ||
| XM_011522424.3:c.*198T>C | XP_011520726.1:n.*198T>C | |
| XM_017023043.2:c.*198T>C | XP_016878532.1:n.*198T>C | |
| NM_005236.3:c.*198T>C MANE Select | NP_005227.1:n.*198T>C |