Linked Data
ClinVar Variation Id:
30725
ClinVar RCV Id:
RCV000023703
dbSNP Id:
rs387906987
ExAC:
19:44012968 A / C
gnomAD v2:
19-44012968-A-C
gnomAD v3:
19-43508816-A-C
gnomAD v4:
19-43508816-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43508816A>C , CM000681.2:g.43508816A>C | GRCh38 |
| NC_000019.9:g.44012968A>C , CM000681.1:g.44012968A>C | GRCh37 |
| NC_000019.8:g.48704808A>C | NCBI36 |
| NG_008141.1:g.23429T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.554T>G MANE Select | ENSP00000292147.1:p.Leu185Arg | |
| ENST00000292147.6:c.554T>G | ENSP00000292147.1:p.Leu185Arg | |
| ENST00000594342.5:c.*117T>G | ENSP00000469652.1:n.*117T>G | |
| ENST00000598330.1:c.*117T>G | ENSP00000469219.1:n.*117T>G | |
| ENST00000600651.5:c.554T>G | ENSP00000469037.1:p.Leu185Arg | |
| NM_014297.3:c.554T>G | NP_055112.2:p.Leu185Arg | |
| XM_005258687.2:c.473T>G | XP_005258744.1:p.Leu158Arg | |
| XM_005258688.2:c.185T>G | XP_005258745.1:p.Leu62Arg | |
| XM_011526685.1:c.275T>G | XP_011524987.1:p.Leu92Arg | |
| NM_001320867.1:c.521T>G | NP_001307796.1:p.Leu174Arg | |
| NM_001320868.1:c.185T>G | NP_001307797.1:p.Leu62Arg | |
| NM_001320869.1:c.260T>G | NP_001307798.1:p.Leu87Arg | |
| NM_014297.4:c.554T>G | NP_055112.2:p.Leu185Arg | |
| XM_005258687.4:c.473T>G | XP_005258744.1:p.Leu158Arg | |
| NM_014297.5:c.554T>G MANE Select | NP_055112.2:p.Leu185Arg | |
| NM_001320867.2:c.521T>G | NP_001307796.1:p.Leu174Arg | |
| NM_001320868.2:c.185T>G | NP_001307797.1:p.Leu62Arg | |
| NM_001320869.2:c.260T>G | NP_001307798.1:p.Leu87Arg |