Linked Data
dbSNP Id:
rs868731868
gnomAD v2:
7-95750528-G-A
gnomAD v3:
7-96121216-G-A
gnomAD v4:
7-96121216-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121216G>A , CM000669.2:g.96121216G>A | GRCh38 |
| NC_000007.13:g.95750528G>A , CM000669.1:g.95750528G>A | GRCh37 |
| NC_000007.12:g.95588464G>A | NCBI36 |
| NG_012247.1:g.205932C>T | |
| NG_012247.2:g.205932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.2003C>T MANE Select | ENSP00000265631.6:p.Ser668Leu | |
| ENST00000265631.9:c.2003C>T | ENSP00000265631.5:p.Ser668Leu | |
| ENST00000416240.6:c.2006C>T | ENSP00000400101.2:p.Ser669Leu | |
| ENST00000494085.1:n.506C>T | ||
| NM_001160210.1:c.2006C>T | NP_001153682.1:p.Ser669Leu | |
| NM_014251.2:c.2003C>T | NP_055066.1:p.Ser668Leu | |
| NR_027662.1:n.2078C>T | ||
| XM_006715831.2:c.2036C>T | XP_006715894.1:p.Ser679Leu | |
| XM_011515728.1:c.1151C>T | XP_011514030.1:p.Ser384Leu | |
| XM_006715831.4:c.2036C>T | XP_006715894.1:p.Ser679Leu | |
| XM_017011663.1:c.1994C>T | XP_016867152.1:p.Ser665Leu | |
| XM_017011664.2:c.1151C>T | XP_016867153.1:p.Ser384Leu | |
| XM_017011665.1:c.1151C>T | XP_016867154.1:p.Ser384Leu | |
| XR_001744525.2:n.2249C>T | ||
| XR_002956405.1:n.2807C>T | ||
| NM_014251.3:c.2003C>T MANE Select | NP_055066.1:p.Ser668Leu | |
| NR_027662.2:n.2029C>T | ||
| NM_001160210.2:c.2006C>T | NP_001153682.1:p.Ser669Leu |