Linked Data
ClinVar Variation Id:
3099417
ClinVar RCV Id:
RCV004387763
dbSNP Id:
rs899026804
gnomAD v2:
21-40752375-A-G
gnomAD v3:
21-39380449-A-G
gnomAD v4:
21-39380449-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39380449A>G , CM000683.2:g.39380449A>G | GRCh38 |
| NC_000021.8:g.40752375A>G , CM000683.1:g.40752375A>G | GRCh37 |
| NC_000021.7:g.39674245A>G | NCBI36 |
| NG_045002.3:g.5163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415847.3:c.-1+2625A>G (GET1) | ENSP00000410228.3:n.-1+2625A>G | |
| ENST00000647678.1:c.-78+679A>G (GET1) | ENSP00000497322.1:n.-78+679A>G | |
| ENST00000647779.1:c.65A>G (GET1-SH3BGR) | ENSP00000497977.1:p.Asn22Ser | |
| ENST00000647911.1:c.65A>G (GET1) | ENSP00000497171.1:p.Asn22Ser | |
| ENST00000648253.1:c.65A>G (GET1-SH3BGR) | ENSP00000497295.1:p.Asn22Ser | |
| ENST00000649100.1:c.65A>G (GET1) | ENSP00000497111.1:p.Asn22Ser | |
| ENST00000649170.1:c.65A>G (GET1) MANE Select | ENSP00000496813.1:p.Asn22Ser | |
| ENST00000649224.1:c.-38A>G (GET1) | ENSP00000497189.1:n.-38A>G | |
| ENST00000650376.1:c.-1+679A>G (GET1) | ENSP00000497103.1:n.-1+679A>G | |
| ENST00000333781.9:c.65A>G (GET1) | ENSP00000327716.5:p.Asn22Ser | |
| ENST00000471468.1:n.36A>G (GET1) | ||
| ENST00000487869.1:n.56A>G (GET1) | ||
| ENST00000623703.3:c.65A>G (GET1) | ENSP00000485555.1:p.Asn22Ser | |
| NM_004627.4:c.65A>G (GET1) | NP_004618.2:p.Asn22Ser | |
| XM_011529744.1:c.65A>G (GET1) | XP_011528046.1:p.Asn22Ser | |
| XM_011529745.1:c.-1+679A>G (GET1) | XP_011528047.1:n.-1+679A>G | |
| NM_001317744.1:c.65A>G (GET1-SH3BGR) | NP_001304673.1:p.Asn22Ser | |
| NM_001350300.1:c.65A>G (GET1-SH3BGR) | NP_001337229.1:p.Asn22Ser | |
| NM_004627.5:c.65A>G (GET1) | NP_004618.2:p.Asn22Ser | |
| NR_146614.1:n.206A>G (GET1) | ||
| NR_146615.1:n.205A>G (GET1) | ||
| NR_146618.1:n.206A>G (GET1-SH3BGR) | ||
| NM_001317744.2:c.65A>G (GET1-SH3BGR) | NP_001304673.1:p.Asn22Ser | |
| NM_001350300.2:c.65A>G (GET1-SH3BGR) | NP_001337229.1:p.Asn22Ser | |
| NM_004627.6:c.65A>G (GET1) MANE Select | NP_004618.2:p.Asn22Ser | |
| NR_146615.2:n.124A>G (GET1) | ||
| NR_146618.2:n.124A>G (GET1-SH3BGR) | ||
| NM_001350294.2:c.-108A>G (GET1) | NP_001337223.1:n.-108A>G | |
| NM_001350295.2:c.-198A>G (GET1) | NP_001337224.1:n.-198A>G | |
| NM_001350296.2:c.-473A>G (GET1) | NP_001337225.1:n.-473A>G | |
| NR_146614.2:n.124A>G (GET1) |