Linked Data
dbSNP Id:
rs773128017
ExAC:
7:138417697 G / T
gnomAD v2:
7-138417697-G-T
gnomAD v4:
7-138732952-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138732952G>T , CM000669.2:g.138732952G>T | GRCh38 |
| NC_000007.13:g.138417697G>T , CM000669.1:g.138417697G>T | GRCh37 |
| NC_000007.12:g.138068237G>T | NCBI36 |
| NG_008145.1:g.70245C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.1833C>A MANE Select | ENSP00000308122.2:p.Ser611Arg | |
| ENST00000478480.2:c.1059C>A | ENSP00000495261.1:p.Ser353Arg | |
| ENST00000644341.1:c.1059C>A | ENSP00000495642.1:p.Ser353Arg | |
| ENST00000645515.1:c.1833C>A | ENSP00000496421.1:p.Ser611Arg | |
| ENST00000647427.1:c.726C>A | ENSP00000496259.1:p.Ser242Arg | |
| ENST00000310018.6:c.1833C>A | ENSP00000308122.2:p.Ser611Arg | |
| ENST00000353492.4:c.1833C>A | ENSP00000253856.6:p.Ser611Arg | |
| ENST00000393054.5:c.1833C>A | ENSP00000376774.1:p.Ser611Arg | |
| NM_020632.2:c.1833C>A | NP_065683.2:p.Ser611Arg | |
| NM_130840.2:c.1833C>A | NP_570855.2:p.Ser611Arg | |
| NM_130841.2:c.1833C>A | NP_570856.2:p.Ser611Arg | |
| XM_005250393.1:c.1833C>A | XP_005250450.1:p.Ser611Arg | |
| XM_005250394.2:c.1833C>A | XP_005250451.1:p.Ser611Arg | |
| XM_005250394.3:c.1833C>A | XP_005250451.1:p.Ser611Arg | |
| NM_020632.3:c.1833C>A MANE Select | NP_065683.2:p.Ser611Arg | |
| NM_130840.3:c.1833C>A | NP_570855.2:p.Ser611Arg | |
| NM_130841.3:c.1833C>A | NP_570856.2:p.Ser611Arg |