Linked Data
ClinVar Variation Id:
29797
dbSNP Id:
rs387906654
ExAC:
8:42286286 G / A
gnomAD v2:
8-42286286-G-A
gnomAD v4:
8-42428768-G-A
PubMed:
PMID:22327515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42428768G>A , CM000670.2:g.42428768G>A | GRCh38 |
| NC_000008.10:g.42286286G>A , CM000670.1:g.42286286G>A | GRCh37 |
| NC_000008.9:g.42405443G>A | NCBI36 |
| NG_032161.1:g.116071C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520262.6:c.1784C>T MANE Select | ENSP00000429754.1:p.Thr595Met | |
| ENST00000342228.7:c.1784C>T | ENSP00000340465.3:p.Thr595Met | |
| ENST00000520179.5:c.1784C>T | ENSP00000429712.1:p.Thr595Met | |
| ENST00000520262.5:c.1784C>T | ENSP00000429754.1:p.Thr595Met | |
| NM_001257180.1:c.1784C>T | NP_001244109.1:p.Thr595Met | |
| NM_001257181.1:c.1784C>T | NP_001244110.1:p.Thr595Met | |
| NM_006749.4:c.1784C>T | NP_006740.1:p.Thr595Met | |
| XM_005273613.2:c.1784C>T | XP_005273670.1:p.Thr595Met | |
| XM_005273615.2:c.1784C>T | XP_005273672.1:p.Thr595Met | |
| XM_006716390.2:c.1643C>T | XP_006716453.1:p.Thr548Met | |
| XM_006716391.2:c.1373C>T | XP_006716454.1:p.Thr458Met | |
| XM_005273613.4:c.1784C>T | XP_005273670.1:p.Thr595Met | |
| XM_005273615.4:c.1784C>T | XP_005273672.1:p.Thr595Met | |
| XM_006716390.4:c.1643C>T | XP_006716453.1:p.Thr548Met | |
| XM_006716391.4:c.1373C>T | XP_006716454.1:p.Thr458Met | |
| XM_017013748.1:c.1784C>T | XP_016869237.1:p.Thr595Met | |
| XM_017013749.2:c.1643C>T | XP_016869238.1:p.Thr548Met | |
| XM_017013750.2:c.1373C>T | XP_016869239.1:p.Thr458Met | |
| XM_017013751.2:c.1373C>T | XP_016869240.1:p.Thr458Met | |
| XM_017013752.2:c.1373C>T | XP_016869241.1:p.Thr458Met | |
| XM_024447235.1:c.1784C>T | XP_024303003.1:p.Thr595Met | |
| XM_024447236.1:c.1784C>T | XP_024303004.1:p.Thr595Met | |
| XM_024447237.1:c.1643C>T | XP_024303005.1:p.Thr548Met | |
| NM_001257180.2:c.1784C>T MANE Select | NP_001244109.1:p.Thr595Met | |
| NM_006749.5:c.1784C>T | NP_006740.1:p.Thr595Met | |
| NM_001257181.2:c.1784C>T | NP_001244110.1:p.Thr595Met |