Linked Data
dbSNP Id:
rs200205962
ExAC:
15:74710245 G / A
gnomAD v2:
15-74710245-G-A
gnomAD v3:
15-74417904-G-A
gnomAD v4:
15-74417904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74417904G>A , CM000677.2:g.74417904G>A | GRCh38 |
| NC_000015.9:g.74710245G>A , CM000677.1:g.74710245G>A | GRCh37 |
| NC_000015.8:g.72497298G>A | NCBI36 |
| NG_011733.1:g.21055C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261918.9:c.438C>T MANE Select | ENSP00000261918.4:p.Asn146= | |
| ENST00000542748.6:c.-58C>T | ENSP00000441493.1:n.-58C>T | |
| ENST00000261918.8:c.438C>T | ENSP00000261918.4:p.Asn146= | |
| ENST00000542748.5:c.-58C>T | ENSP00000441493.1:n.-58C>T | |
| ENST00000543145.6:c.396C>T | ENSP00000438966.2:p.Asn132= | |
| ENST00000567345.1:c.-58C>T | ENSP00000454365.1:n.-58C>T | |
| NM_001146029.1:c.396C>T | NP_001139501.1:p.Asn132= | |
| NM_001146030.1:c.-58C>T | NP_001139502.1:n.-58C>T | |
| NM_003612.3:c.438C>T | NP_003603.1:p.Asn146= | |
| NM_001146029.2:c.396C>T | NP_001139501.1:p.Asn132= | |
| NM_001146030.2:c.-58C>T | NP_001139502.1:n.-58C>T | |
| NM_003612.4:c.438C>T | NP_003603.1:p.Asn146= | |
| NM_003612.5:c.438C>T MANE Select | NP_003603.1:p.Asn146= | |
| NM_001146029.3:c.396C>T | NP_001139501.1:p.Asn132= | |
| NM_001146030.3:c.-58C>T | NP_001139502.1:n.-58C>T |