Linked Data
ClinVar Variation Id:
289211
ClinVar RCV Id:
RCV000365243
RCV000308234
RCV000726299
RCV000408260
RCV000664158
RCV002518075
RCV003884445
dbSNP Id:
rs745857330
ExAC:
19:7293862 A / G
gnomAD v2:
19-7293862-A-G
gnomAD v3:
19-7293851-A-G
gnomAD v4:
19-7293851-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7293851A>G , CM000681.2:g.7293851A>G | GRCh38 |
| NC_000019.9:g.7293862A>G , CM000681.1:g.7293862A>G | GRCh37 |
| NC_000019.8:g.7244862A>G | NCBI36 |
| NG_008852.2:g.5150T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.41T>C MANE Select | ENSP00000303830.4:p.Leu14Pro | |
| ENST00000302850.9:c.41T>C | ENSP00000303830.4:p.Leu14Pro | |
| ENST00000341500.9:c.41T>C | ENSP00000342838.4:p.Leu14Pro | |
| ENST00000598216.1:n.16T>C | ||
| NM_000208.2:c.41T>C | NP_000199.2:p.Leu14Pro | |
| NM_000208.3:c.41T>C | NP_000199.2:p.Leu14Pro | |
| NM_001079817.1:c.41T>C | NP_001073285.1:p.Leu14Pro | |
| NM_001079817.2:c.41T>C | NP_001073285.1:p.Leu14Pro | |
| XM_011527988.2:c.41T>C | XP_011526290.2:p.Leu14Pro | |
| XM_011527989.3:c.41T>C | XP_011526291.2:p.Leu14Pro | |
| NM_000208.4:c.41T>C MANE Select | NP_000199.2:p.Leu14Pro | |
| NM_001079817.3:c.41T>C | NP_001073285.1:p.Leu14Pro |