Linked Data
ClinVar Variation Id:
351008
ClinVar RCV Id:
RCV000286802
dbSNP Id:
rs755271975
ExAC:
5:13714634 G / A
gnomAD v2:
5-13714634-G-A
gnomAD v3:
5-13714525-G-A
gnomAD v4:
5-13714525-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13714525G>A , CM000667.2:g.13714525G>A | GRCh38 |
| NC_000005.9:g.13714634G>A , CM000667.1:g.13714634G>A | GRCh37 |
| NC_000005.8:g.13767634G>A | NCBI36 |
| NG_013081.1:g.234956C>T | |
| NG_013081.2:g.234956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.338C>T | ||
| ENST00000265104.5:c.13005C>T MANE Select | ENSP00000265104.4:p.Thr4335= | |
| ENST00000681290.1:c.12960C>T | ENSP00000505288.1:p.Thr4320= | |
| ENST00000265104.4:c.13005C>T | ENSP00000265104.4:p.Thr4335= | |
| NM_001369.2:c.13005C>T | NP_001360.1:p.Thr4335= | |
| XM_005248262.2:c.12960C>T | XP_005248319.1:p.Thr4320= | |
| XM_005248262.3:c.13113C>T | XP_005248319.2:p.Thr4371= | |
| XM_017009177.1:c.12813+2790C>T | XP_016864666.1:n.12813+2790C>T | |
| XM_017009178.1:c.12018C>T | XP_016864667.1:p.Thr4006= | |
| XM_017009179.2:c.12018C>T | XP_016864668.1:p.Thr4006= | |
| XM_017009185.1:c.8202C>T | XP_016864674.1:p.Thr2734= | |
| XM_017009186.1:c.7755C>T | XP_016864675.1:p.Thr2585= | |
| XM_017009188.1:c.7092C>T | XP_016864677.1:p.Thr2364= | |
| XM_024454388.1:c.12018C>T | XP_024310156.1:p.Thr4006= | |
| XM_024454389.1:c.11607C>T | XP_024310157.1:p.Thr3869= | |
| NM_001369.3:c.13005C>T MANE Select | NP_001360.1:p.Thr4335= |