Linked Data
dbSNP Id:
rs1378810
gnomAD v2:
3-132254090-A-T
gnomAD v3:
3-132535246-A-T
gnomAD v4:
3-132535246-A-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132535246A>T , CM000665.2:g.132535246A>T | GRCh38 |
| NC_000003.11:g.132254090A>T , CM000665.1:g.132254090A>T | GRCh37 |
| NC_000003.10:g.133736780A>T | NCBI36 |
| NG_051045.1:g.122720A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260818.11:c.6626-2930A>T MANE Select | ENSP00000260818.6:n.6626-2930A>T | |
| ENST00000650455.1:c.*4900-2930A>T | ENSP00000496825.1:n.*4900-2930A>T | |
| ENST00000260818.10:c.6626-2930A>T | ENSP00000260818.6:n.6626-2930A>T | |
| ENST00000509279.1:c.232-1912A>T | ||
| NM_015268.3:c.6626-2930A>T | NP_056083.3:n.6626-2930A>T | |
| XM_005247245.3:c.6641-2930A>T | XP_005247302.1:n.6641-2930A>T | |
| NM_001329126.1:c.6641-2930A>T | NP_001316055.1:n.6641-2930A>T | |
| XM_017006036.1:c.4595-2930A>T | XP_016861525.1:n.4595-2930A>T | |
| NM_015268.4:c.6626-2930A>T MANE Select | NP_056083.3:n.6626-2930A>T | |
| NM_001329126.2:c.6641-2930A>T | NP_001316055.1:n.6641-2930A>T |