Linked Data
ClinVar Variation Id:
31085
ClinVar RCV Id:
RCV002054471
dbSNP Id:
rs387907097
ExAC:
20:2398091 T / G
gnomAD v2:
20-2398091-T-G
gnomAD v3:
20-2417445-T-G
gnomAD v4:
20-2417445-T-G
PubMed:
PMID:21106500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2417445T>G , CM000682.2:g.2417445T>G | GRCh38 |
| NC_000020.10:g.2398091T>G , CM000682.1:g.2398091T>G | GRCh37 |
| NC_000020.9:g.2346091T>G | NCBI36 |
| NG_031917.1:g.41538T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000202625.7:c.1550T>G MANE Select | ENSP00000202625.2:p.Leu517Trp | |
| ENST00000202625.6:c.1550T>G | ENSP00000202625.2:p.Leu517Trp | |
| ENST00000381423.1:c.1550T>G | ENSP00000370831.1:p.Leu517Trp | |
| NM_001254734.1:c.1550T>G | NP_001241663.1:p.Leu517Trp | |
| NM_198994.2:c.1550T>G | NP_945345.2:p.Leu517Trp | |
| NM_001254734.2:c.1550T>G | NP_001241663.1:p.Leu517Trp | |
| NM_198994.3:c.1550T>G MANE Select | NP_945345.2:p.Leu517Trp |