Linked Data
gnomAD v3:
6-30723977-C-A
gnomAD v4:
6-30723977-C-A
MyVariant Identifiers:
chr6:g.30691754C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723977C>A , CM000668.2:g.30723977C>A | GRCh38 |
| NC_000006.11:g.30691754C>A , CM000668.1:g.30691754C>A | GRCh37 |
| NC_000006.10:g.30799733C>A | NCBI36 |
| NG_034142.1:g.8777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.915C>A MANE Select | ENSP00000339001.7:p.Pro305= | |
| ENST00000680530.1:n.1777C>A | ||
| ENST00000681421.1:n.1981C>A | ||
| ENST00000681435.1:c.699C>A | ENSP00000506665.1:p.Pro233= | |
| ENST00000327892.12:c.915C>A | ENSP00000339001.7:p.Pro305= | |
| ENST00000330914.7:c.699C>A | ENSP00000365578.2:p.Pro233= | |
| ENST00000396384.1:c.699C>A | ENSP00000379668.1:p.Pro233= | |
| ENST00000396389.5:c.861C>A | ENSP00000379672.1:p.Pro287= | |
| NM_001293212.1:c.975C>A | NP_001280141.1:p.Pro325= | |
| NM_001293213.1:c.370-61C>A | NP_001280142.1:n.370-61C>A | |
| NM_001293214.1:c.783C>A | NP_001280143.1:p.Pro261= | |
| NM_001293215.1:c.699C>A | NP_001280144.1:p.Pro233= | |
| NM_001293216.1:c.699C>A | NP_001280145.1:p.Pro233= | |
| NM_178014.3:c.915C>A | NP_821133.1:p.Pro305= | |
| NR_120608.1:n.622C>A | ||
| NM_178014.4:c.915C>A MANE Select | NP_821133.1:p.Pro305= | |
| NM_001293212.2:c.975C>A | NP_001280141.1:p.Pro325= | |
| NM_001293213.2:c.370-61C>A | NP_001280142.1:n.370-61C>A | |
| NM_001293214.2:c.783C>A | NP_001280143.1:p.Pro261= | |
| NM_001293215.2:c.699C>A | NP_001280144.1:p.Pro233= | |
| NM_001293216.2:c.699C>A | NP_001280145.1:p.Pro233= | |
| NR_120608.2:n.471C>A |