Linked Data
dbSNP Id:
rs373657229
ExAC:
10:105824148 C / T
gnomAD v2:
10-105824148-C-T
gnomAD v3:
10-104064390-C-T
gnomAD v4:
10-104064390-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104064390C>T , CM000672.2:g.104064390C>T | GRCh38 |
| NC_000010.10:g.105824148C>T , CM000672.1:g.105824148C>T | GRCh37 |
| NC_000010.9:g.105814138C>T | NCBI36 |
| NG_007069.1:g.26491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.766+48G>A | ENSP00000358748.3:n.766+48G>A | |
| ENST00000648076.2:c.766+48G>A MANE Select | ENSP00000497653.1:n.766+48G>A | |
| ENST00000649118.1:n.881+48G>A | ||
| ENST00000650263.1:c.718+48G>A | ENSP00000497850.1:n.718+48G>A | |
| ENST00000353479.9:c.766+48G>A | ENSP00000340937.5:n.766+48G>A | |
| ENST00000369733.7:c.766+48G>A | ENSP00000358748.3:n.766+48G>A | |
| ENST00000393211.3:c.766+48G>A | ENSP00000376905.3:n.766+48G>A | |
| ENST00000488320.1:n.111+48G>A | ||
| NM_000494.3:c.766+48G>A | NP_000485.3:n.766+48G>A | |
| NM_000494.4:c.766+48G>A MANE Select | NP_000485.3:n.766+48G>A |