Linked Data
ClinVar Variation Id:
407227
dbSNP Id:
rs1060501456
gnomAD v3:
5-13721014-G-A
gnomAD v4:
5-13721014-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13721014G>A , CM000667.2:g.13721014G>A | GRCh38 |
| NC_000005.9:g.13721123G>A , CM000667.1:g.13721123G>A | GRCh37 |
| NC_000005.8:g.13774123G>A | NCBI36 |
| NG_013081.1:g.228467C>T | |
| NG_013081.2:g.228467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12265C>T MANE Select | ENSP00000265104.4:p.Gln4089Ter | |
| ENST00000681290.1:c.12220C>T | ENSP00000505288.1:p.Gln4074Ter | |
| ENST00000265104.4:c.12265C>T | ENSP00000265104.4:p.Gln4089Ter | |
| NM_001369.2:c.12265C>T | NP_001360.1:p.Gln4089Ter | |
| XM_005248262.2:c.12220C>T | XP_005248319.1:p.Gln4074Ter | |
| XM_005248262.3:c.12373C>T | XP_005248319.2:p.Gln4125Ter | |
| XM_017009177.1:c.12373C>T | XP_016864666.1:p.Gln4125Ter | |
| XM_017009178.1:c.11278C>T | XP_016864667.1:p.Gln3760Ter | |
| XM_017009179.2:c.11278C>T | XP_016864668.1:p.Gln3760Ter | |
| XM_017009180.1:c.12373C>T | XP_016864669.1:p.Gln4125Ter | |
| XM_017009185.1:c.7462C>T | XP_016864674.1:p.Gln2488Ter | |
| XM_017009186.1:c.7015C>T | XP_016864675.1:p.Gln2339Ter | |
| XM_017009188.1:c.6352C>T | XP_016864677.1:p.Gln2118Ter | |
| XM_024454388.1:c.11278C>T | XP_024310156.1:p.Gln3760Ter | |
| XM_024454389.1:c.10867C>T | XP_024310157.1:p.Gln3623Ter | |
| NM_001369.3:c.12265C>T MANE Select | NP_001360.1:p.Gln4089Ter |