Linked Data
ClinVar Variation Id:
161537
ClinVar RCV Id:
RCV000149072
dbSNP Id:
rs193920979
gnomAD v2:
7-29963595-G-A
gnomAD v3:
7-29923979-G-A
gnomAD v4:
7-29923979-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29923979G>A , CM000669.2:g.29923979G>A | GRCh38 |
| NC_000007.13:g.29963595G>A , CM000669.1:g.29963595G>A | GRCh37 |
| NC_000007.12:g.29930120G>A | NCBI36 |
| NG_047114.1:g.71311C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242059.10:c.1223C>T MANE Select | ENSP00000242059.5:p.Thr408Met | |
| ENST00000242059.9:c.1223C>T | ENSP00000242059.5:p.Thr408Met | |
| ENST00000409497.5:c.1223C>T | ENSP00000386872.1:p.Thr408Met | |
| ENST00000425819.6:c.1019C>T | ENSP00000414245.2:p.Thr340Met | |
| ENST00000426154.5:c.1223C>T | ENSP00000409068.1:p.Thr408Met | |
| ENST00000434476.6:c.1283C>T | ENSP00000388942.1:p.Thr428Met | |
| NM_001145513.1:c.1223C>T | NP_001138985.1:p.Thr408Met | |
| NM_001145514.1:c.1283C>T | NP_001138986.1:p.Thr428Met | |
| NM_001145515.1:c.1019C>T | NP_001138987.1:p.Thr340Met | |
| NM_014766.4:c.1223C>T | NP_055581.3:p.Thr408Met | |
| XM_005249918.3:c.1223C>T | XP_005249975.1:p.Thr408Met | |
| XM_011515653.1:c.1223C>T | XP_011513955.1:p.Thr408Met | |
| XM_024447007.1:c.1223C>T | XP_024302775.1:p.Thr408Met | |
| NM_014766.5:c.1223C>T MANE Select | NP_055581.3:p.Thr408Met | |
| NM_001145515.2:c.1019C>T | NP_001138987.1:p.Thr340Met |