Linked Data
ClinVar Variation Id:
329786
dbSNP Id:
rs201971200
ExAC:
19:49468837 C / T
gnomAD v2:
19-49468837-C-T
gnomAD v3:
19-48965580-C-T
gnomAD v4:
19-48965580-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965580C>T , CM000681.2:g.48965580C>T | GRCh38 |
| NC_000019.9:g.49468837C>T , CM000681.1:g.49468837C>T | GRCh37 |
| NC_000019.8:g.54160649C>T | NCBI36 |
| NG_008152.1:g.5272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.73C>T MANE Select | ENSP00000366525.2:p.Leu25= | |
| ENST00000331825.10:c.73C>T | ENSP00000366525.2:p.Leu25= | |
| ENST00000622577.2:c.73C>T | ENSP00000484043.1:p.Leu25= | |
| NM_000146.3:c.73C>T | NP_000137.2:p.Leu25= | |
| XM_024451447.1:c.583C>T | XP_024307215.1:p.Leu195= | |
| NM_000146.4:c.73C>T MANE Select | NP_000137.2:p.Leu25= |