Linked Data
dbSNP Id:
rs750272002
ExAC:
18:13885498 G / A
gnomAD v2:
18-13885498-G-A
gnomAD v3:
18-13885499-G-A
gnomAD v4:
18-13885499-G-A
COSMIC:
COSM1600221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885499G>A , CM000680.2:g.13885499G>A | GRCh38 |
| NC_000018.9:g.13885498G>A , CM000680.1:g.13885498G>A | GRCh37 |
| NC_000018.8:g.13875498G>A | NCBI36 |
| NG_011819.1:g.35038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.20C>T MANE Select | ENSP00000333821.2:p.Ser7Leu | |
| ENST00000327606.3:c.20C>T | ENSP00000333821.2:p.Ser7Leu | |
| ENST00000399821.2:c.20C>T | ENSP00000382718.2:p.Ser7Leu | |
| NM_000529.2:c.20C>T MANE Select | NP_000520.1:p.Ser7Leu | |
| NM_001291911.1:c.20C>T | NP_001278840.1:p.Ser7Leu | |
| XM_017025781.1:c.20C>T | XP_016881270.1:p.Ser7Leu |