Linked Data
ClinVar Variation Id:
7054
dbSNP Id:
rs137853054
ExAC:
6:162394349 G / A
gnomAD v2:
6-162394349-G-A
gnomAD v3:
6-161973317-G-A
gnomAD v4:
6-161973317-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161973317G>A , CM000668.2:g.161973317G>A | GRCh38 |
| NC_000006.11:g.162394349G>A , CM000668.1:g.162394349G>A | GRCh37 |
| NC_000006.10:g.162314339G>A | NCBI36 |
| NG_008289.1:g.759486C>T | |
| NG_008289.2:g.759486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.597C>T | ENSP00000343589.4:n.597C>T | |
| ENST00000366894.6:c.478C>T | ENSP00000355860.2:n.478C>T | |
| ENST00000366898.6:c.719C>T MANE Select | ENSP00000355865.1:p.Thr240Met | |
| ENST00000673871.1:c.714C>T | ||
| ENST00000674232.1:n.737C>T | ||
| ENST00000674436.1:n.355C>T | ||
| ENST00000674501.1:n.826C>T | ||
| ENST00000338468.7:c.146C>T | ENSP00000343589.3:p.Thr49Met | |
| ENST00000366892.5:c.719C>T | ENSP00000355858.1:p.Thr240Met | |
| ENST00000366894.5:c.146C>T | ENSP00000355860.1:p.Thr49Met | |
| ENST00000366896.5:c.272C>T | ENSP00000355862.1:p.Thr91Met | |
| ENST00000366897.5:c.635C>T | ENSP00000355863.1:p.Thr212Met | |
| ENST00000366898.5:c.719C>T | ENSP00000355865.1:p.Thr240Met | |
| ENST00000479615.5:c.482C>T | ENSP00000434414.1:p.Thr161Met | |
| NM_004562.2:c.719C>T | NP_004553.2:p.Thr240Met | |
| NM_013987.2:c.635C>T | NP_054642.2:p.Thr212Met | |
| NM_013988.2:c.272C>T | NP_054643.2:p.Thr91Met | |
| XM_011535863.1:c.716C>T | XP_011534165.1:p.Thr239Met | |
| XM_011535864.1:c.719C>T | XP_011534166.1:p.Thr240Met | |
| XM_011535865.1:c.719C>T | XP_011534167.1:p.Thr240Met | |
| XM_011535866.1:c.719C>T | XP_011534168.1:p.Thr240Met | |
| XM_011535867.1:c.719C>T | XP_011534169.1:p.Thr240Met | |
| XM_017010908.1:c.833C>T | XP_016866397.1:p.Thr278Met | |
| XM_017010909.2:c.479C>T | XP_016866398.1:p.Thr160Met | |
| XM_024446449.1:c.482C>T | XP_024302217.1:p.Thr161Met | |
| XR_001743443.2:n.825C>T | ||
| NM_004562.3:c.719C>T MANE Select | NP_004553.2:p.Thr240Met | |
| NM_013987.3:c.635C>T | NP_054642.2:p.Thr212Met | |
| NM_013988.3:c.272C>T | NP_054643.2:p.Thr91Met |