Linked Data
dbSNP Id:
rs754107120
ExAC:
6:30691659 A / C
gnomAD v2:
6-30691659-A-C
gnomAD v4:
6-30723882-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723882A>C , CM000668.2:g.30723882A>C | GRCh38 |
| NC_000006.11:g.30691659A>C , CM000668.1:g.30691659A>C | GRCh37 |
| NC_000006.10:g.30799638A>C | NCBI36 |
| NG_034142.1:g.8682A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.820A>C MANE Select | ENSP00000339001.7:p.Thr274Pro | |
| ENST00000680530.1:n.1682A>C | ||
| ENST00000681421.1:n.1886A>C | ||
| ENST00000681435.1:c.604A>C | ENSP00000506665.1:p.Thr202Pro | |
| ENST00000327892.12:c.820A>C | ENSP00000339001.7:p.Thr274Pro | |
| ENST00000330914.7:c.604A>C | ENSP00000365578.2:p.Thr202Pro | |
| ENST00000396384.1:c.604A>C | ENSP00000379668.1:p.Thr202Pro | |
| ENST00000396389.5:c.766A>C | ENSP00000379672.1:p.Thr256Pro | |
| NM_001293212.1:c.880A>C | NP_001280141.1:p.Thr294Pro | |
| NM_001293213.1:c.370-156A>C | NP_001280142.1:n.370-156A>C | |
| NM_001293214.1:c.688A>C | NP_001280143.1:p.Thr230Pro | |
| NM_001293215.1:c.604A>C | NP_001280144.1:p.Thr202Pro | |
| NM_001293216.1:c.604A>C | NP_001280145.1:p.Thr202Pro | |
| NM_178014.3:c.820A>C | NP_821133.1:p.Thr274Pro | |
| NR_120608.1:n.584-57A>C | ||
| NM_178014.4:c.820A>C MANE Select | NP_821133.1:p.Thr274Pro | |
| NM_001293212.2:c.880A>C | NP_001280141.1:p.Thr294Pro | |
| NM_001293213.2:c.370-156A>C | NP_001280142.1:n.370-156A>C | |
| NM_001293214.2:c.688A>C | NP_001280143.1:p.Thr230Pro | |
| NM_001293215.2:c.604A>C | NP_001280144.1:p.Thr202Pro | |
| NM_001293216.2:c.604A>C | NP_001280145.1:p.Thr202Pro | |
| NR_120608.2:n.433-57A>C |