Linked Data
ClinVar Variation Id:
2782736
ClinVar RCV Id:
RCV003664153
dbSNP Id:
rs1435986257
gnomAD v2:
19-45515265-C-T
gnomAD v3:
19-45012007-C-T
gnomAD v4:
19-45012007-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012007C>T , CM000681.2:g.45012007C>T | GRCh38 |
| NC_000019.9:g.45515265C>T , CM000681.1:g.45515265C>T | GRCh37 |
| NC_000019.8:g.50207105C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.226C>T | ENSP00000423287.1:p.Leu76= | |
| ENST00000700471.1:c.73C>T | ENSP00000515004.1:p.Leu25= | |
| ENST00000221452.13:c.235C>T MANE Select | ENSP00000221452.7:p.Leu79= | |
| ENST00000221452.12:c.235C>T | ENSP00000221452.7:p.Leu79= | |
| ENST00000505236.1:c.226C>T | ENSP00000423287.1:p.Leu76= | |
| ENST00000509480.5:c.*322C>T | ENSP00000427348.1:n.*322C>T | |
| ENST00000625761.2:c.235C>T | ENSP00000485826.1:p.Leu79= | |
| NM_006509.3:c.235C>T | NP_006500.2:p.Leu79= | |
| XM_005259127.2:c.226C>T | XP_005259184.1:p.Leu76= | |
| XM_005259128.2:c.235C>T | XP_005259185.1:p.Leu79= | |
| XM_005259127.3:c.226C>T | XP_005259184.1:p.Leu76= | |
| NM_006509.4:c.235C>T MANE Select | NP_006500.2:p.Leu79= |