Linked Data
ClinVar Variation Id:
39637
dbSNP Id:
rs147718607
ExAC:
19:48807210 C / T
gnomAD v2:
19-48807210-C-T
gnomAD v3:
19-48303953-C-T
gnomAD v4:
19-48303953-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48303953C>T , CM000681.2:g.48303953C>T | GRCh38 |
| NC_000019.9:g.48807210C>T , CM000681.1:g.48807210C>T | GRCh37 |
| NC_000019.8:g.53499022C>T | NCBI36 |
| NG_033251.1:g.21123G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474199.6:c.853G>A | ENSP00000501357.1:p.Ala285Thr | |
| ENST00000674207.1:c.*561G>A | ENSP00000501374.1:n.*561G>A | |
| ENST00000674294.1:c.853G>A MANE Select | ENSP00000501363.1:p.Ala285Thr | |
| ENST00000315396.7:c.742G>A | ENSP00000318429.7:p.Ala248Thr | |
| ENST00000474199.5:n.870G>A | ||
| NM_144577.3:c.742G>A | NP_653178.3:p.Ala248Thr | |
| XM_005259413.2:c.853G>A | XP_005259470.1:p.Ala285Thr | |
| XM_005259414.2:c.853G>A | XP_005259471.1:p.Ala285Thr | |
| XM_005259415.2:c.853G>A | XP_005259472.1:p.Ala285Thr | |
| XM_005259416.3:c.169G>A | XP_005259473.1:p.Ala57Thr | |
| XM_011527515.1:c.742G>A | XP_011525817.1:p.Ala248Thr | |
| XM_011527516.1:c.742G>A | XP_011525818.1:p.Ala248Thr | |
| XM_011527517.1:c.853G>A | XP_011525819.1:p.Ala285Thr | |
| XM_011527518.1:c.853G>A | XP_011525820.1:p.Ala285Thr | |
| NM_001364171.1:c.853G>A | NP_001351100.1:p.Ala285Thr | |
| NM_144577.4:c.742G>A | NP_653178.3:p.Ala248Thr | |
| XM_005259414.3:c.853G>A | XP_005259471.1:p.Ala285Thr | |
| XM_005259415.3:c.853G>A | XP_005259472.1:p.Ala285Thr | |
| XM_005259416.4:c.169G>A | XP_005259473.1:p.Ala57Thr | |
| XM_011527515.2:c.742G>A | XP_011525817.1:p.Ala248Thr | |
| XM_011527516.2:c.742G>A | XP_011525818.1:p.Ala248Thr | |
| XM_017027483.1:c.577G>A | XP_016882972.1:p.Ala193Thr | |
| XM_024451782.1:c.892G>A | XP_024307550.1:p.Ala298Thr | |
| XM_024451783.1:c.853G>A | XP_024307551.1:p.Ala285Thr | |
| NM_001364171.2:c.853G>A MANE Select | NP_001351100.1:p.Ala285Thr |