Linked Data
dbSNP Id:
rs780739882
ExAC:
19:12769249 G / A
gnomAD v2:
19-12769249-G-A
gnomAD v3:
19-12658435-G-A
gnomAD v4:
19-12658435-G-A
COSMIC:
COSM2816144
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658435G>A , CM000681.2:g.12658435G>A | GRCh38 |
| NC_000019.9:g.12769249G>A , CM000681.1:g.12769249G>A | GRCh37 |
| NC_000019.8:g.12630249G>A | NCBI36 |
| NG_008318.1:g.13343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1102C>T MANE Select | ENSP00000395473.2:p.Leu368Phe | |
| ENST00000221363.8:c.1099C>T | ENSP00000221363.4:p.Leu367Phe | |
| ENST00000456935.6:c.1102C>T | ENSP00000395473.2:p.Leu368Phe | |
| ENST00000465830.1:n.183C>T | ||
| ENST00000466794.5:n.1009-91C>T | ||
| ENST00000495617.1:n.280+296C>T | ||
| NM_000528.3:c.1102C>T | NP_000519.2:p.Leu368Phe | |
| NM_001173498.1:c.1099C>T | NP_001166969.1:p.Leu367Phe | |
| XM_005259913.1:c.1105C>T | XP_005259970.1:p.Leu369Phe | |
| XM_011528017.1:c.9-91C>T | XP_011526319.1:n.9-91C>T | |
| XM_005259913.2:c.1105C>T | XP_005259970.1:p.Leu369Phe | |
| XM_024451518.1:c.9-91C>T | XP_024307286.1:n.9-91C>T | |
| NM_000528.4:c.1102C>T MANE Select | NP_000519.2:p.Leu368Phe | |
| NM_001173498.2:c.1099C>T | NP_001166969.1:p.Leu367Phe |