Linked Data
ClinVar Variation Id:
469655
ClinVar RCV Id:
RCV000550717
dbSNP Id:
rs148797643
ExAC:
19:30199200 C / T
gnomAD v2:
19-30199200-C-T
gnomAD v3:
19-29708293-C-T
gnomAD v4:
19-29708293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29708293C>T , CM000681.2:g.29708293C>T | GRCh38 |
| NC_000019.9:g.30199200C>T , CM000681.1:g.30199200C>T | GRCh37 |
| NC_000019.8:g.34891040C>T | NCBI36 |
| NG_031970.1:g.12497G>A | |
| NG_031970.2:g.12497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614091.5:c.121G>A | ENSP00000482097.2:p.Val41Ile | |
| ENST00000623113.3:c.121G>A | ENSP00000485413.2:p.Val41Ile | |
| ENST00000323670.14:c.121G>A MANE Select | ENSP00000313332.9:p.Val41Ile | |
| ENST00000323670.13:c.121G>A | ENSP00000313332.8:p.Val41Ile | |
| ENST00000342680.5:c.121G>A | ENSP00000345497.5:p.Val41Ile | |
| ENST00000392275.1:n.552-5316G>A | ||
| ENST00000392276.1:c.-32-5316G>A | ENSP00000376102.1:n.-32-5316G>A | |
| ENST00000392278.2:c.154G>A | ENSP00000376103.2:p.Val52Ile | |
| ENST00000591243.1:c.121G>A | ENSP00000467516.1:p.Val41Ile | |
| ENST00000592153.5:c.121G>A | ENSP00000467117.1:p.Val41Ile | |
| ENST00000614091.4:c.121G>A | ENSP00000482097.1:p.Val41Ile | |
| ENST00000623113.1:c.-32-5316G>A | ENSP00000485413.1:n.-32-5316G>A | |
| NM_001031726.3:c.154G>A | NP_001026896.2:p.Val52Ile | |
| NM_001256046.1:c.121G>A | NP_001242975.1:p.Val41Ile | |
| NM_001256047.1:c.121G>A | NP_001242976.1:p.Val41Ile | |
| NM_001282929.1:c.-32-5316G>A | NP_001269858.1:n.-32-5316G>A | |
| NM_001282930.1:c.-32-5316G>A | NP_001269859.1:n.-32-5316G>A | |
| NM_001282931.1:c.-193G>A | NP_001269860.1:n.-193G>A | |
| NM_031448.4:c.121G>A | NP_113636.2:p.Val41Ile | |
| XM_024451734.1:c.283G>A | XP_024307502.1:p.Val95Ile | |
| XM_024451735.1:c.121G>A | XP_024307503.1:p.Val41Ile | |
| XM_024451736.1:c.121G>A | XP_024307504.1:p.Val41Ile | |
| XM_024451737.1:c.121G>A | XP_024307505.1:p.Val41Ile | |
| XM_024451738.1:c.121G>A | XP_024307506.1:p.Val41Ile | |
| NM_001256046.2:c.121G>A | NP_001242975.1:p.Val41Ile | |
| NM_001282930.2:c.-32-5316G>A | NP_001269859.1:n.-32-5316G>A | |
| NM_001282931.2:c.-193G>A | NP_001269860.1:n.-193G>A | |
| NM_031448.6:c.121G>A MANE Select | NP_113636.2:p.Val41Ile | |
| NM_001031726.4:c.121G>A | NP_001026896.3:p.Val41Ile | |
| NM_001256046.3:c.121G>A | NP_001242975.1:p.Val41Ile | |
| NM_001256047.2:c.121G>A | NP_001242976.1:p.Val41Ile | |
| NM_001282930.3:c.-32-5316G>A | NP_001269859.1:n.-32-5316G>A | |
| NM_001282931.3:c.-193G>A | NP_001269860.1:n.-193G>A |