Linked Data
dbSNP Id:
rs980333586
gnomAD v2:
16-3293136-G-A
gnomAD v3:
16-3243136-G-A
gnomAD v4:
16-3243136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243136G>A , CM000678.2:g.3243136G>A | GRCh38 |
| NC_000016.9:g.3293136G>A , CM000678.1:g.3293136G>A | GRCh37 |
| NC_000016.8:g.3233137G>A | NCBI36 |
| NG_007871.1:g.18492C>T , LRG_190:g.18492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1472C>T | ||
| ENST00000219596.6:c.*5C>T MANE Select | ENSP00000219596.1:n.*5C>T | |
| ENST00000219596.5:c.*5C>T | ENSP00000219596.1:n.*5C>T | |
| ENST00000339854.8:c.*5C>T | ENSP00000339639.4:n.*5C>T | |
| ENST00000536980.5:c.*627C>T | ENSP00000444178.1:n.*627C>T | |
| ENST00000537682.5:c.*627C>T | ENSP00000438611.1:n.*627C>T | |
| ENST00000538326.5:c.*976C>T | ENSP00000437486.1:n.*976C>T | |
| ENST00000542898.5:c.*627C>T | ENSP00000444615.1:n.*627C>T | |
| NM_000243.2:c.*5C>T , LRG_190t1:c.*5C>T | NP_000234.1:n.*5C>T | |
| NM_001198536.1:c.*555C>T | NP_001185465.1:n.*555C>T | |
| XM_017023236.2:c.*5C>T | XP_016878725.1:n.*5C>T | |
| NM_000243.3:c.*5C>T MANE Select | NP_000234.1:n.*5C>T | |
| NM_001198536.2:c.*555C>T | NP_001185465.2:n.*555C>T |