Linked Data
ClinVar Variation Id:
130838
dbSNP Id:
rs150807158
ExAC:
19:42729121 C / T
gnomAD v2:
19-42729121-C-T
gnomAD v3:
19-42224969-C-T
gnomAD v4:
19-42224969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42224969C>T , CM000681.2:g.42224969C>T | GRCh38 |
| NC_000019.9:g.42729121C>T , CM000681.1:g.42729121C>T | GRCh37 |
| NC_000019.8:g.47420961C>T | NCBI36 |
| NG_053183.1:g.9699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710326.1:c.566C>T | ENSP00000518206.1:p.Pro189Leu | |
| ENST00000301215.8:c.566C>T MANE Select | ENSP00000301215.2:p.Pro189Leu | |
| ENST00000678490.1:c.93+7088G>A | ||
| ENST00000301215.7:c.566C>T | ENSP00000301215.2:p.Pro189Leu | |
| NM_001314033.1:c.566C>T | NP_001300962.1:p.Pro189Leu | |
| NM_133444.1:c.566C>T | NP_597701.1:p.Pro189Leu | |
| NM_133444.2:c.566C>T | NP_597701.1:p.Pro189Leu | |
| NM_001314033.2:c.566C>T | NP_001300962.1:p.Pro189Leu | |
| NM_001314033.3:c.566C>T | NP_001300962.1:p.Pro189Leu | |
| NM_133444.3:c.566C>T MANE Select | NP_597701.1:p.Pro189Leu |