Linked Data
dbSNP Id:
rs755911366
ExAC:
6:30691766 A / T
gnomAD v2:
6-30691766-A-T
gnomAD v3:
6-30723989-A-T
gnomAD v4:
6-30723989-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723989A>T , CM000668.2:g.30723989A>T | GRCh38 |
| NC_000006.11:g.30691766A>T , CM000668.1:g.30691766A>T | GRCh37 |
| NC_000006.10:g.30799745A>T | NCBI36 |
| NG_034142.1:g.8789A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.927A>T MANE Select | ENSP00000339001.7:p.Arg309= | |
| ENST00000680530.1:n.1789A>T | ||
| ENST00000681421.1:n.1993A>T | ||
| ENST00000681435.1:c.711A>T | ENSP00000506665.1:p.Arg237= | |
| ENST00000327892.12:c.927A>T | ENSP00000339001.7:p.Arg309= | |
| ENST00000330914.7:c.711A>T | ENSP00000365578.2:p.Arg237= | |
| ENST00000396384.1:c.711A>T | ENSP00000379668.1:p.Arg237= | |
| ENST00000396389.5:c.873A>T | ENSP00000379672.1:p.Arg291= | |
| NM_001293212.1:c.987A>T | NP_001280141.1:p.Arg329= | |
| NM_001293213.1:c.370-49A>T | NP_001280142.1:n.370-49A>T | |
| NM_001293214.1:c.795A>T | NP_001280143.1:p.Arg265= | |
| NM_001293215.1:c.711A>T | NP_001280144.1:p.Arg237= | |
| NM_001293216.1:c.711A>T | NP_001280145.1:p.Arg237= | |
| NM_178014.3:c.927A>T | NP_821133.1:p.Arg309= | |
| NR_120608.1:n.634A>T | ||
| NM_178014.4:c.927A>T MANE Select | NP_821133.1:p.Arg309= | |
| NM_001293212.2:c.987A>T | NP_001280141.1:p.Arg329= | |
| NM_001293213.2:c.370-49A>T | NP_001280142.1:n.370-49A>T | |
| NM_001293214.2:c.795A>T | NP_001280143.1:p.Arg265= | |
| NM_001293215.2:c.711A>T | NP_001280144.1:p.Arg237= | |
| NM_001293216.2:c.711A>T | NP_001280145.1:p.Arg237= | |
| NR_120608.2:n.483A>T |