Linked Data
dbSNP Id:
rs3522
gnomAD v2:
15-74244344-C-T
gnomAD v3:
15-73952003-C-T
gnomAD v4:
15-73952003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73952003C>T , CM000677.2:g.73952003C>T | GRCh38 |
| NC_000015.9:g.74244344C>T , CM000677.1:g.74244344C>T | GRCh37 |
| NC_000015.8:g.72031397C>T | NCBI36 |
| NG_011466.1:g.30556C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261921.8:c.*166C>T MANE Select | ENSP00000261921.7:n.*166C>T | |
| ENST00000261921.7:c.*166C>T | ENSP00000261921.7:n.*166C>T | |
| ENST00000562548.1:n.976C>T | ||
| ENST00000567675.1:n.327C>T | ||
| NM_005576.2:c.*166C>T | NP_005567.2:n.*166C>T | |
| XR_931824.1:n.2408C>T | ||
| NM_005576.3:c.*166C>T | NP_005567.2:n.*166C>T | |
| XM_017022179.1:c.*166C>T | XP_016877668.1:n.*166C>T | |
| XR_931824.2:n.2397C>T | ||
| NM_005576.4:c.*166C>T MANE Select | NP_005567.2:n.*166C>T |