Linked Data
ClinVar Variation Id:
1637502
ClinVar RCV Id:
RCV002131280
dbSNP Id:
rs554747620
gnomAD v2:
16-3767482-G-A
gnomAD v3:
16-3717481-G-A
gnomAD v4:
16-3717481-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3717481G>A , CM000678.2:g.3717481G>A | GRCh38 |
| NC_000016.9:g.3767482G>A , CM000678.1:g.3767482G>A | GRCh37 |
| NC_000016.8:g.3707483G>A | NCBI36 |
| NG_033088.1:g.5117C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246957.10:c.28C>T MANE Select | ENSP00000246957.5:p.Leu10= | |
| ENST00000246957.9:c.28C>T | ENSP00000246957.5:p.Leu10= | |
| ENST00000538171.5:c.28C>T | ENSP00000442070.1:p.Leu10= | |
| ENST00000570403.1:c.28C>T | ENSP00000461354.1:p.Leu10= | |
| ENST00000571011.1:c.28C>T | ENSP00000460545.1:p.Leu10= | |
| ENST00000571804.5:c.28C>T | ENSP00000461618.1:p.Leu10= | |
| ENST00000574941.5:n.46C>T | ||
| ENST00000576106.5:n.73C>T | ||
| NM_001272049.1:c.28C>T | NP_001258978.1:p.Leu10= | |
| NM_016292.2:c.28C>T | NP_057376.2:p.Leu10= | |
| NM_016292.3:c.28C>T MANE Select | NP_057376.2:p.Leu10= | |
| NM_001272049.2:c.28C>T | NP_001258978.1:p.Leu10= |