Linked Data
ClinVar Variation Id:
2997180
ClinVar RCV Id:
RCV003851299
dbSNP Id:
rs201476706
ExAC:
19:30193640 G / A
gnomAD v2:
19-30193640-G-A
gnomAD v3:
19-29702733-G-A
gnomAD v4:
19-29702733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29702733G>A , CM000681.2:g.29702733G>A | GRCh38 |
| NC_000019.9:g.30193640G>A , CM000681.1:g.30193640G>A | GRCh37 |
| NC_000019.8:g.34885480G>A | NCBI36 |
| NG_031970.1:g.18057C>T | |
| NG_031970.2:g.18057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623113.3:c.405C>T | ENSP00000485413.2:p.Ala135= | |
| ENST00000323670.14:c.405C>T MANE Select | ENSP00000313332.9:p.Ala135= | |
| ENST00000323670.13:c.405C>T | ENSP00000313332.8:p.Ala135= | |
| ENST00000392275.1:n.796C>T | ||
| ENST00000392276.1:c.213C>T | ENSP00000376102.1:p.Ala71= | |
| ENST00000392278.2:c.438C>T | ENSP00000376103.2:p.Ala146= | |
| ENST00000592153.5:c.*26C>T | ENSP00000467117.1:n.*26C>T | |
| ENST00000614091.4:c.405C>T | ENSP00000482097.1:p.Ala135= | |
| ENST00000623113.1:c.213C>T | ENSP00000485413.1:p.Ala71= | |
| NM_001031726.3:c.438C>T | NP_001026896.2:p.Ala146= | |
| NM_001256046.1:c.*26C>T | NP_001242975.1:n.*26C>T | |
| NM_001256047.1:c.405C>T | NP_001242976.1:p.Ala135= | |
| NM_001282929.1:c.213C>T | NP_001269858.1:p.Ala71= | |
| NM_001282930.1:c.213C>T | NP_001269859.1:p.Ala71= | |
| NM_001282931.1:c.213C>T | NP_001269860.1:p.Ala71= | |
| NM_031448.4:c.405C>T | NP_113636.2:p.Ala135= | |
| XM_024451734.1:c.567C>T | XP_024307502.1:p.Ala189= | |
| XM_024451735.1:c.405C>T | XP_024307503.1:p.Ala135= | |
| XM_024451736.1:c.405C>T | XP_024307504.1:p.Ala135= | |
| XM_024451737.1:c.405C>T | XP_024307505.1:p.Ala135= | |
| XM_024451738.1:c.405C>T | XP_024307506.1:p.Ala135= | |
| NM_001256046.2:c.*26C>T | NP_001242975.1:n.*26C>T | |
| NM_001282930.2:c.213C>T | NP_001269859.1:p.Ala71= | |
| NM_001282931.2:c.213C>T | NP_001269860.1:p.Ala71= | |
| NM_031448.6:c.405C>T MANE Select | NP_113636.2:p.Ala135= | |
| NM_001031726.4:c.405C>T | NP_001026896.3:p.Ala135= | |
| NM_001256046.3:c.*26C>T | NP_001242975.1:n.*26C>T | |
| NM_001256047.2:c.405C>T | NP_001242976.1:p.Ala135= | |
| NM_001282930.3:c.213C>T | NP_001269859.1:p.Ala71= | |
| NM_001282931.3:c.213C>T | NP_001269860.1:p.Ala71= |