Linked Data
dbSNP Id:
rs16853834
gnomAD v2:
2-216210236-C-T
gnomAD v3:
2-215345513-C-T
gnomAD v4:
2-215345513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215345513C>T , CM000664.2:g.215345513C>T | GRCh38 |
| NC_000002.11:g.216210236C>T , CM000664.1:g.216210236C>T | GRCh37 |
| NC_000002.10:g.215918481C>T | NCBI36 |
| NG_013002.1:g.38558C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236959.14:c.1320+642C>T MANE Select | ENSP00000236959.9:n.1320+642C>T | |
| ENST00000236959.13:c.1320+642C>T | ENSP00000236959.9:n.1320+642C>T | |
| ENST00000426233.1:c.325+642C>T | ||
| ENST00000435675.5:c.1317+642C>T | ENSP00000415935.1:n.1317+642C>T | |
| ENST00000443953.5:c.*1417+642C>T | ENSP00000406792.1:n.*1417+642C>T | |
| ENST00000446622.5:n.400+642C>T | ||
| ENST00000459796.1:n.773C>T | ||
| ENST00000467388.1:n.232+642C>T | ||
| ENST00000479093.5:n.235+642C>T | ||
| NM_004044.6:c.1320+642C>T | NP_004035.2:n.1320+642C>T | |
| XM_017004187.2:c.1320+642C>T | XP_016859676.1:n.1320+642C>T | |
| XM_024452919.1:c.1143+642C>T | XP_024308687.1:n.1143+642C>T | |
| NM_004044.7:c.1320+642C>T MANE Select | NP_004035.2:n.1320+642C>T |