Linked Data
dbSNP Id:
rs759115056
ExAC:
2:216209559 C / T
gnomAD v2:
2-216209559-C-T
gnomAD v4:
2-215344836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344836C>T , CM000664.2:g.215344836C>T | GRCh38 |
| NC_000002.11:g.216209559C>T , CM000664.1:g.216209559C>T | GRCh37 |
| NC_000002.10:g.215917804C>T | NCBI36 |
| NG_013002.1:g.37881C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.1285C>T MANE Select | ENSP00000236959.9:p.Gln429Ter | |
| ENST00000236959.13:c.1285C>T | ENSP00000236959.9:p.Gln429Ter | |
| ENST00000426233.1:c.290C>T | ||
| ENST00000435675.5:c.1282C>T | ENSP00000415935.1:p.Gln428Ter | |
| ENST00000443953.5:c.*1382C>T | ENSP00000406792.1:n.*1382C>T | |
| ENST00000446622.5:n.365C>T | ||
| ENST00000459796.1:n.96C>T | ||
| ENST00000467388.1:n.197C>T | ||
| ENST00000479093.5:n.200C>T | ||
| NM_004044.6:c.1285C>T | NP_004035.2:p.Gln429Ter | |
| XM_017004187.2:c.1285C>T | XP_016859676.1:p.Gln429Ter | |
| XM_024452919.1:c.1108C>T | XP_024308687.1:p.Gln370Ter | |
| NM_004044.7:c.1285C>T MANE Select | NP_004035.2:p.Gln429Ter |