Linked Data
ClinVar Variation Id:
1168240
dbSNP Id:
rs6264
ExAC:
7:50611735 T / C
gnomAD v2:
7-50611735-T-C
gnomAD v3:
7-50544037-T-C
gnomAD v4:
7-50544037-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50544037T>C , CM000669.2:g.50544037T>C | GRCh38 |
| NC_000007.13:g.50611735T>C , CM000669.1:g.50611735T>C | GRCh37 |
| NC_000007.12:g.50579229T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.49A>G MANE Select | ENSP00000403644.2:p.Met17Val | |
| ENST00000357936.9:c.49A>G | ENSP00000350616.5:p.Met17Val | |
| ENST00000380984.4:c.49A>G | ENSP00000370371.4:p.Met17Val | |
| ENST00000420203.1:c.49A>G | ENSP00000408626.1:p.Met17Val | |
| ENST00000426377.5:c.49A>G | ENSP00000395069.1:p.Met17Val | |
| ENST00000431062.5:c.49A>G | ENSP00000399184.1:p.Met17Val | |
| ENST00000444124.6:c.49A>G | ENSP00000403644.2:p.Met17Val | |
| ENST00000444733.5:c.49A>G | ENSP00000393724.1:p.Met17Val | |
| ENST00000615193.4:c.49A>G | ENSP00000484104.1:p.Met17Val | |
| ENST00000617822.4:c.49A>G | ENSP00000478385.1:p.Met17Val | |
| ENST00000622873.4:c.49A>G | ENSP00000479110.1:p.Met17Val | |
| XM_005271745.3:c.49A>G | XP_005271802.1:p.Met17Val | |
| XM_005271745.4:c.49A>G | XP_005271802.1:p.Met17Val | |
| NM_001082971.2:c.49A>G MANE Select | NP_001076440.2:p.Met17Val | |
| NM_000790.4:c.49A>G | NP_000781.2:p.Met17Val | |
| NM_001242888.2:c.49A>G | NP_001229817.2:p.Met17Val | |
| NM_001242890.2:c.49A>G | NP_001229819.2:p.Met17Val | |
| NM_001242886.2:c.49A>G | NP_001229815.2:p.Met17Val | |
| NM_001242887.2:c.49A>G | NP_001229816.2:p.Met17Val | |
| NM_001242889.2:c.49A>G | NP_001229818.2:p.Met17Val |