Linked Data
ClinVar Variation Id:
1383215
dbSNP Id:
rs765948890
ExAC:
19:45515269 C / T
gnomAD v2:
19-45515269-C-T
gnomAD v3:
19-45012011-C-T
gnomAD v4:
19-45012011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012011C>T , CM000681.2:g.45012011C>T | GRCh38 |
| NC_000019.9:g.45515269C>T , CM000681.1:g.45515269C>T | GRCh37 |
| NC_000019.8:g.50207109C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.230C>T | ENSP00000423287.1:p.Pro77Leu | |
| ENST00000700471.1:c.77C>T | ENSP00000515004.1:p.Pro26Leu | |
| ENST00000221452.13:c.239C>T MANE Select | ENSP00000221452.7:p.Pro80Leu | |
| ENST00000221452.12:c.239C>T | ENSP00000221452.7:p.Pro80Leu | |
| ENST00000505236.1:c.230C>T | ENSP00000423287.1:p.Pro77Leu | |
| ENST00000509480.5:c.*326C>T | ENSP00000427348.1:n.*326C>T | |
| ENST00000625761.2:c.239C>T | ENSP00000485826.1:p.Pro80Leu | |
| NM_006509.3:c.239C>T | NP_006500.2:p.Pro80Leu | |
| XM_005259127.2:c.230C>T | XP_005259184.1:p.Pro77Leu | |
| XM_005259128.2:c.239C>T | XP_005259185.1:p.Pro80Leu | |
| XM_005259127.3:c.230C>T | XP_005259184.1:p.Pro77Leu | |
| NM_006509.4:c.239C>T MANE Select | NP_006500.2:p.Pro80Leu |