Linked Data
dbSNP Id:
rs775796181
ExAC:
2:241808498 C / T
gnomAD v2:
2-241808498-C-T
gnomAD v4:
2-240869081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869081C>T , CM000664.2:g.240869081C>T | GRCh38 |
| NC_000002.11:g.241808498C>T , CM000664.1:g.241808498C>T | GRCh37 |
| NC_000002.10:g.241457171C>T | NCBI36 |
| NG_008005.1:g.5337C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.165+51C>T MANE Select | ENSP00000302620.3:n.165+51C>T | |
| ENST00000307503.3:c.165+51C>T | ENSP00000302620.3:n.165+51C>T | |
| ENST00000472436.1:n.185+51C>T | ||
| NM_000030.2:c.165+51C>T | NP_000021.1:n.165+51C>T | |
| XR_924060.1:n.405+1152G>A | ||
| NM_000030.3:c.165+51C>T MANE Select | NP_000021.1:n.165+51C>T |