Linked Data
dbSNP Id:
rs749811311
ExAC:
10:105816917 G / A
gnomAD v2:
10-105816917-G-A
gnomAD v3:
10-104057159-G-A
gnomAD v4:
10-104057159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104057159G>A , CM000672.2:g.104057159G>A | GRCh38 |
| NC_000010.10:g.105816917G>A , CM000672.1:g.105816917G>A | GRCh37 |
| NC_000010.9:g.105806907G>A | NCBI36 |
| NG_007069.1:g.33722C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.1281C>T | ENSP00000358748.3:p.Tyr427= | |
| ENST00000648076.2:c.1281C>T MANE Select | ENSP00000497653.1:p.Tyr427= | |
| ENST00000650263.1:c.1233C>T | ENSP00000497850.1:p.Tyr411= | |
| ENST00000353479.9:c.1281C>T | ENSP00000340937.5:p.Tyr427= | |
| ENST00000369733.7:c.1281C>T | ENSP00000358748.3:p.Tyr427= | |
| NM_000494.3:c.1281C>T | NP_000485.3:p.Tyr427= | |
| NM_000494.4:c.1281C>T MANE Select | NP_000485.3:p.Tyr427= |