Linked Data
ClinVar Variation Id:
1448516
ClinVar RCV Id:
RCV002012173
dbSNP Id:
rs528075802
ExAC:
7:127253511 G / A
gnomAD v2:
7-127253511-G-A
gnomAD v3:
7-127613457-G-A
gnomAD v4:
7-127613457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127613457G>A , CM000669.2:g.127613457G>A | GRCh38 |
| NC_000007.13:g.127253511G>A , CM000669.1:g.127253511G>A | GRCh37 |
| NC_000007.12:g.127040747G>A | NCBI36 |
| NG_012848.1:g.7270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.638C>T MANE Select | ENSP00000491782.1:p.Thr213Met | |
| ENST00000338516.7:c.638C>T | ENSP00000344297.4:p.Thr213Met | |
| ENST00000341640.6:c.614C>T | ENSP00000339906.2:p.Thr205Met | |
| ENST00000378740.6:c.614C>T | ENSP00000368014.3:p.Thr205Met | |
| ENST00000463946.5:c.608C>T | ENSP00000451923.1:p.Thr203Met | |
| ENST00000477423.1:n.608C>T | ||
| ENST00000483494.5:c.608C>T | ENSP00000473846.1:p.Thr203Met | |
| ENST00000611453.1:c.608C>T | ENSP00000477877.1:p.Thr203Met | |
| NM_006193.2:c.614C>T | NP_006184.2:p.Thr205Met | |
| XM_011516276.1:c.638C>T | XP_011514578.1:p.Thr213Met | |
| NM_001366110.1:c.638C>T MANE Select | NP_001353039.1:p.Thr213Met | |
| NM_001366111.1:c.638C>T | NP_001353040.1:p.Thr213Met |