Linked Data
ClinVar Variation Id:
516893
dbSNP Id:
rs150300993
ExAC:
19:49669280 C / T
gnomAD v2:
19-49669280-C-T
gnomAD v3:
19-49166023-C-T
gnomAD v4:
19-49166023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49166023C>T , CM000681.2:g.49166023C>T | GRCh38 |
| NC_000019.9:g.49669280C>T , CM000681.1:g.49669280C>T | GRCh37 |
| NC_000019.8:g.54361092C>T | NCBI36 |
| NG_027551.1:g.13265C>T | |
| NG_027551.2:g.13265C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252826.10:c.93-18C>T MANE Select | ENSP00000252826.4:n.93-18C>T | |
| ENST00000252826.9:c.93-18C>T | ENSP00000252826.4:n.93-18C>T | |
| ENST00000427978.6:c.93-18C>T | ENSP00000407492.1:n.93-18C>T | |
| ENST00000595519.5:c.93-2237C>T | ENSP00000469893.1:n.93-2237C>T | |
| ENST00000596338.5:n.128-18C>T | ||
| ENST00000598502.5:c.93-18C>T | ENSP00000470229.1:n.93-18C>T | |
| ENST00000598691.5:c.93-18C>T | ENSP00000473231.1:n.93-18C>T | |
| ENST00000598697.5:c.93-2530C>T | ENSP00000468989.1:n.93-2530C>T | |
| NM_001195227.1:c.93-18C>T | NP_001182156.1:n.93-18C>T | |
| NM_017636.3:c.93-18C>T | NP_060106.2:n.93-18C>T | |
| XM_011527046.1:c.-74-2237C>T | XP_011525348.1:n.-74-2237C>T | |
| NM_001321281.1:c.93-18C>T | NP_001308210.1:n.93-18C>T | |
| NM_001321282.1:c.-1280-18C>T | NP_001308211.1:n.-1280-18C>T | |
| NM_001321283.1:c.-74-2237C>T | NP_001308212.1:n.-74-2237C>T | |
| NM_001321285.1:c.-237-2530C>T | NP_001308214.1:n.-237-2530C>T | |
| NM_017636.4:c.93-18C>T MANE Select | NP_060106.2:n.93-18C>T | |
| NM_001195227.2:c.93-18C>T | NP_001182156.1:n.93-18C>T | |
| NM_001321281.2:c.93-18C>T | NP_001308210.1:n.93-18C>T | |
| NM_001321282.2:c.-1280-18C>T | NP_001308211.1:n.-1280-18C>T | |
| NM_001321283.2:c.-74-2237C>T | NP_001308212.1:n.-74-2237C>T | |
| NM_001321285.2:c.-237-2530C>T | NP_001308214.1:n.-237-2530C>T |