Linked Data
dbSNP Id:
rs1220635932
gnomAD v2:
16-3293906-T-A
gnomAD v3:
16-3243906-T-A
gnomAD v4:
16-3243906-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243906T>A , CM000678.2:g.3243906T>A | GRCh38 |
| NC_000016.9:g.3293906T>A , CM000678.1:g.3293906T>A | GRCh37 |
| NC_000016.8:g.3233907T>A | NCBI36 |
| NG_007871.1:g.17722A>T , LRG_190:g.17722A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.881-14A>T | ||
| ENST00000219596.6:c.1760-14A>T MANE Select | ENSP00000219596.1:n.1760-14A>T | |
| ENST00000219596.5:c.1760-14A>T | ENSP00000219596.1:n.1760-14A>T | |
| ENST00000339854.8:c.1220-14A>T | ENSP00000339639.4:n.1220-14A>T | |
| ENST00000536379.5:c.1127-14A>T | ENSP00000445079.1:n.1127-14A>T | |
| ENST00000536980.5:c.*36-14A>T | ENSP00000444178.1:n.*36-14A>T | |
| ENST00000537682.5:c.*36-14A>T | ENSP00000438611.1:n.*36-14A>T | |
| ENST00000538326.5:c.*385-14A>T | ENSP00000437486.1:n.*385-14A>T | |
| ENST00000539145.5:c.681-14A>T | ENSP00000444471.1:n.681-14A>T | |
| ENST00000541159.5:c.1288A>T | ENSP00000438711.1:p.Ile430Phe | |
| ENST00000542898.5:c.*36-14A>T | ENSP00000444615.1:n.*36-14A>T | |
| ENST00000570511.5:c.1165-14A>T | ENSP00000458312.1:n.1165-14A>T | |
| ENST00000572244.5:c.450-14A>T | ENSP00000461186.1:n.450-14A>T | |
| ENST00000574583.5:c.532-14A>T | ENSP00000460269.1:n.532-14A>T | |
| ENST00000576315.5:c.565-14A>T | ENSP00000460551.1:n.565-14A>T | |
| ENST00000621655.1:c.1283A>T | ENSP00000481436.1:n.1283A>T | |
| NM_000243.2:c.1760-14A>T , LRG_190t1:c.1760-14A>T | NP_000234.1:n.1760-14A>T | |
| NM_001198536.1:c.1288A>T | NP_001185465.1:p.Ile430Phe | |
| XM_017023236.2:c.1757-14A>T | XP_016878725.1:n.1757-14A>T | |
| XR_001751903.1:n.2067-14A>T | ||
| NM_000243.3:c.1760-14A>T MANE Select | NP_000234.1:n.1760-14A>T | |
| NM_001198536.2:c.1288A>T | NP_001185465.2:p.Ile430Phe |