Linked Data
dbSNP Id:
rs1484233891
gnomAD v2:
6-30691760-C-T
gnomAD v3:
6-30723983-C-T
gnomAD v4:
6-30723983-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723983C>T , CM000668.2:g.30723983C>T | GRCh38 |
| NC_000006.11:g.30691760C>T , CM000668.1:g.30691760C>T | GRCh37 |
| NC_000006.10:g.30799739C>T | NCBI36 |
| NG_034142.1:g.8783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.921C>T MANE Select | ENSP00000339001.7:p.His307= | |
| ENST00000680530.1:n.1783C>T | ||
| ENST00000681421.1:n.1987C>T | ||
| ENST00000681435.1:c.705C>T | ENSP00000506665.1:p.His235= | |
| ENST00000327892.12:c.921C>T | ENSP00000339001.7:p.His307= | |
| ENST00000330914.7:c.705C>T | ENSP00000365578.2:p.His235= | |
| ENST00000396384.1:c.705C>T | ENSP00000379668.1:p.His235= | |
| ENST00000396389.5:c.867C>T | ENSP00000379672.1:p.His289= | |
| NM_001293212.1:c.981C>T | NP_001280141.1:p.His327= | |
| NM_001293213.1:c.370-55C>T | NP_001280142.1:n.370-55C>T | |
| NM_001293214.1:c.789C>T | NP_001280143.1:p.His263= | |
| NM_001293215.1:c.705C>T | NP_001280144.1:p.His235= | |
| NM_001293216.1:c.705C>T | NP_001280145.1:p.His235= | |
| NM_178014.3:c.921C>T | NP_821133.1:p.His307= | |
| NR_120608.1:n.628C>T | ||
| NM_178014.4:c.921C>T MANE Select | NP_821133.1:p.His307= | |
| NM_001293212.2:c.981C>T | NP_001280141.1:p.His327= | |
| NM_001293213.2:c.370-55C>T | NP_001280142.1:n.370-55C>T | |
| NM_001293214.2:c.789C>T | NP_001280143.1:p.His263= | |
| NM_001293215.2:c.705C>T | NP_001280144.1:p.His235= | |
| NM_001293216.2:c.705C>T | NP_001280145.1:p.His235= | |
| NR_120608.2:n.477C>T |