Linked Data
ClinVar Variation Id:
1592
ClinVar RCV Id:
RCV000001659
dbSNP Id:
rs104895548
gnomAD v4:
19-54939626-A-C
MyVariant Identifiers:
chr19:g.54939626A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54939626A>C , CM000681.2:g.54939626A>C | GRCh38 |
| NC_000019.8:g.60142806A>C | NCBI36 |
| NG_008056.1:g.12880T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592784.6:c.1193T>G MANE Select | ENSP00000468706.1:p.Leu398Arg | |
| ENST00000328092.9:c.1193T>G | ENSP00000329568.5:p.Leu398Arg | |
| ENST00000340844.6:c.1193T>G | ENSP00000339491.2:p.Leu398Arg | |
| ENST00000586379.5:c.1193T>G | ENSP00000468243.1:p.Leu398Arg | |
| ENST00000588756.5:c.1193T>G | ENSP00000467123.1:p.Leu398Arg | |
| ENST00000590030.5:c.1193T>G | ENSP00000465520.1:p.Leu398Arg | |
| ENST00000592784.5:c.1193T>G | ENSP00000468706.1:p.Leu398Arg | |
| NM_001127255.1:c.1193T>G | NP_001120727.1:p.Leu398Arg | |
| NM_139176.3:c.1193T>G | NP_631915.2:p.Leu398Arg | |
| NM_206828.3:c.1193T>G | NP_996611.2:p.Leu398Arg | |
| XM_006723075.2:c.1193T>G | XP_006723138.1:p.Leu398Arg | |
| XM_006723076.2:c.1193T>G | XP_006723139.1:p.Leu398Arg | |
| XM_011526596.1:c.1277T>G | XP_011524898.1:p.Leu426Arg | |
| XM_011526597.1:c.1277T>G | XP_011524899.1:p.Leu426Arg | |
| XM_011526598.1:c.1277T>G | XP_011524900.1:p.Leu426Arg | |
| XM_011526599.1:c.1193T>G | XP_011524901.1:p.Leu398Arg | |
| XM_011526600.1:c.1193T>G | XP_011524902.1:p.Leu398Arg | |
| XM_011526601.1:c.1277T>G | XP_011524903.1:p.Leu426Arg | |
| XR_935761.1:n.1711T>G | ||
| XM_006723075.3:c.1193T>G | XP_006723138.1:p.Leu398Arg | |
| XM_006723076.3:c.1193T>G | XP_006723139.1:p.Leu398Arg | |
| XM_011526596.2:c.1277T>G | XP_011524898.1:p.Leu426Arg | |
| XM_011526599.2:c.1193T>G | XP_011524901.1:p.Leu398Arg | |
| XM_011526601.2:c.1277T>G | XP_011524903.1:p.Leu426Arg |