Linked Data
ClinVar Variation Id:
731995
ClinVar RCV Id:
RCV001448345
dbSNP Id:
rs763204640
gnomAD v2:
15-89868902-G-T
gnomAD v3:
15-89325671-G-T
gnomAD v4:
15-89325671-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325671G>T , CM000677.2:g.89325671G>T | GRCh38 |
| NC_000015.9:g.89868902G>T , CM000677.1:g.89868902G>T | GRCh37 |
| NC_000015.8:g.87669906G>T | NCBI36 |
| NG_008218.1:g.14125C>A | |
| NG_008218.2:g.14125C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1728C>A | ENSP00000516154.1:p.Leu576= | |
| ENST00000268124.11:c.1728C>A MANE Select | ENSP00000268124.5:p.Leu576= | |
| ENST00000530292.3:c.1329C>A | ENSP00000432885.2:p.Leu443= | |
| ENST00000635986.2:c.1728C>A | ENSP00000490653.2:p.Leu576= | |
| ENST00000636774.1:c.*295C>A | ENSP00000489799.1:n.*295C>A | |
| ENST00000637238.1:c.465C>A | ENSP00000490756.1:p.Leu155= | |
| ENST00000637264.1:c.800C>A | ||
| ENST00000666746.1:c.1305C>A | ||
| ENST00000670281.1:c.48C>A | ENSP00000499709.1:p.Leu16= | |
| ENST00000672071.1:n.1926C>A | ||
| ENST00000672923.2:n.1831C>A | ||
| ENST00000268124.9:c.1728C>A | ENSP00000268124.5:p.Leu576= | |
| ENST00000442287.6:c.1728C>A | ENSP00000399851.2:p.Leu576= | |
| ENST00000526314.2:c.110C>A | ||
| ENST00000631044.2:c.*1111C>A | ENSP00000486730.1:n.*1111C>A | |
| NM_001126131.1:c.1728C>A | NP_001119603.1:p.Leu576= | |
| NM_002693.2:c.1728C>A | NP_002684.1:p.Leu576= | |
| NM_001126131.2:c.1728C>A | NP_001119603.1:p.Leu576= | |
| NM_002693.3:c.1728C>A MANE Select | NP_002684.1:p.Leu576= |