Linked Data
ClinVar Variation Id:
371744
dbSNP Id:
rs1057517501
gnomAD v2:
7-92157749-T-A
gnomAD v4:
7-92528435-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92528435T>A , CM000669.2:g.92528435T>A | GRCh38 |
| NC_000007.13:g.92157749T>A , CM000669.1:g.92157749T>A | GRCh37 |
| NC_000007.12:g.91995685T>A | NCBI36 |
| NG_008341.1:g.5097A>T | |
| NG_008341.2:g.5097A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.1A>T MANE Select | ENSP00000248633.4:p.Met1Leu | |
| ENST00000248633.8:c.1A>T | ENSP00000248633.4:p.Met1Leu | |
| ENST00000428214.5:c.1A>T | ENSP00000394413.1:p.Met1Leu | |
| ENST00000438045.5:c.1A>T | ENSP00000410438.1:p.Met1Leu | |
| ENST00000484913.5:n.5A>T | ||
| NM_000466.2:c.1A>T | NP_000457.1:p.Met1Leu | |
| NM_001282677.1:c.1A>T | NP_001269606.1:p.Met1Leu | |
| NM_001282678.1:c.-659A>T | NP_001269607.1:n.-659A>T | |
| XR_242246.3:n.97A>T | ||
| XR_242246.5:n.48A>T | ||
| NM_000466.3:c.1A>T MANE Select | NP_000457.1:p.Met1Leu | |
| NM_001282677.2:c.1A>T | NP_001269606.1:p.Met1Leu | |
| NM_001282678.2:c.-659A>T | NP_001269607.1:n.-659A>T |