Linked Data
dbSNP Id:
rs751804651
gnomAD v2:
10-105794370-G-T
gnomAD v3:
10-104034612-G-T
gnomAD v4:
10-104034612-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034612G>T , CM000672.2:g.104034612G>T | GRCh38 |
| NC_000010.10:g.105794370G>T , CM000672.1:g.105794370G>T | GRCh37 |
| NC_000010.9:g.105784360G>T | NCBI36 |
| NG_007069.1:g.56269C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369733.8:c.3520+9C>A | ENSP00000358748.3:n.3520+9C>A | |
| ENST00000648076.2:c.3766+9C>A MANE Select | ENSP00000497653.1:n.3766+9C>A | |
| ENST00000353479.9:c.3766+9C>A | ENSP00000340937.5:n.3766+9C>A | |
| ENST00000369733.7:c.3520+9C>A | ENSP00000358748.3:n.3520+9C>A | |
| NM_000494.3:c.3766+9C>A | NP_000485.3:n.3766+9C>A | |
| NM_000494.4:c.3766+9C>A MANE Select | NP_000485.3:n.3766+9C>A |