Linked Data
dbSNP Id:
rs540693807
gnomAD v2:
2-96958620-C-A
gnomAD v3:
2-96292882-C-A
gnomAD v4:
2-96292882-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96292882C>A , CM000664.2:g.96292882C>A | GRCh38 |
| NC_000002.11:g.96958620C>A , CM000664.1:g.96958620C>A | GRCh37 |
| NC_000002.10:g.96322347C>A | NCBI36 |
| NG_016973.1:g.17678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.2160+90G>T MANE Select | ENSP00000317123.5:n.2160+90G>T | |
| ENST00000652267.1:c.2160+90G>T | ENSP00000498933.1:n.2160+90G>T | |
| ENST00000323853.9:c.2160+90G>T | ENSP00000317123.5:n.2160+90G>T | |
| NM_014014.4:c.2160+90G>T | NP_054733.2:n.2160+90G>T | |
| NM_014014.5:c.2160+90G>T MANE Select | NP_054733.2:n.2160+90G>T |