Linked Data
dbSNP Id:
rs1783105454
gnomAD v4:
7-6392024-C-T
MyVariant Identifiers:
chr7:g.6431655C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6392024C>T , CM000669.2:g.6392024C>T | GRCh38 |
| NC_000007.13:g.6431655C>T , CM000669.1:g.6431655C>T | GRCh37 |
| NC_000007.12:g.6398180C>T | NCBI36 |
| NG_029431.1:g.22530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696666.1:n.396C>T | ||
| ENST00000704002.1:c.307C>T | ENSP00000515615.1:p.Leu103= | |
| ENST00000704003.1:c.*161C>T | ENSP00000515616.1:n.*161C>T | |
| ENST00000348035.9:c.208C>T MANE Select | ENSP00000258737.7:p.Leu70= | |
| ENST00000348035.8:c.208C>T | ENSP00000258737.7:p.Leu70= | |
| ENST00000356142.4:c.208C>T | ENSP00000348461.4:p.Leu70= | |
| ENST00000488373.5:n.439C>T | ||
| ENST00000497741.5:n.224C>T | ||
| NM_006908.4:c.208C>T | NP_008839.2:p.Leu70= | |
| NM_018890.3:c.208C>T | NP_061485.1:p.Leu70= | |
| NM_006908.5:c.208C>T MANE Select | NP_008839.2:p.Leu70= | |
| NM_018890.4:c.208C>T | NP_061485.1:p.Leu70= |