Linked Data
dbSNP Id:
rs772117000
gnomAD v2:
10-105812967-C-T
gnomAD v3:
10-104053209-C-T
gnomAD v4:
10-104053209-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104053209C>T , CM000672.2:g.104053209C>T | GRCh38 |
| NC_000010.10:g.105812967C>T , CM000672.1:g.105812967C>T | GRCh37 |
| NC_000010.9:g.105802957C>T | NCBI36 |
| NG_007069.1:g.37672G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369733.8:c.1835-74G>A | ENSP00000358748.3:n.1835-74G>A | |
| ENST00000648076.2:c.1835-74G>A MANE Select | ENSP00000497653.1:n.1835-74G>A | |
| ENST00000650263.1:c.1787-74G>A | ENSP00000497850.1:n.1787-74G>A | |
| ENST00000353479.9:c.1835-74G>A | ENSP00000340937.5:n.1835-74G>A | |
| ENST00000369733.7:c.1835-74G>A | ENSP00000358748.3:n.1835-74G>A | |
| NM_000494.3:c.1835-74G>A | NP_000485.3:n.1835-74G>A | |
| NM_000494.4:c.1835-74G>A MANE Select | NP_000485.3:n.1835-74G>A |