Linked Data
ClinVar Variation Id:
977639
ClinVar RCV Id:
RCV001255421
dbSNP Id:
rs941586004
gnomAD v2:
19-13039231-A-G
gnomAD v3:
19-12928417-A-G
gnomAD v4:
19-12928417-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12928417A>G , CM000681.2:g.12928417A>G | GRCh38 |
| NC_000019.9:g.13039231A>G , CM000681.1:g.13039231A>G | GRCh37 |
| NC_000019.8:g.12900231A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314606.9:c.766T>C MANE Select | ENSP00000320309.3:p.Phe256Leu | |
| ENST00000314606.8:c.766T>C | ENSP00000320309.3:p.Phe256Leu | |
| ENST00000423140.6:c.673T>C | ENSP00000396548.2:p.Phe225Leu | |
| ENST00000586146.5:c.728T>C | ENSP00000468068.1:n.728T>C | |
| ENST00000586280.1:n.796T>C | ||
| ENST00000587488.5:c.23T>C | ||
| ENST00000588025.5:c.886T>C | ENSP00000468051.1:p.Phe296Leu | |
| ENST00000588965.5:n.766T>C | ||
| ENST00000592662.5:n.845T>C | ||
| ENST00000593021.1:c.513T>C | ||
| NM_004461.2:c.766T>C | NP_004452.1:p.Phe256Leu | |
| XM_024451419.1:c.766T>C | XP_024307187.1:p.Phe256Leu | |
| NM_004461.3:c.766T>C MANE Select | NP_004452.1:p.Phe256Leu |