Linked Data
dbSNP Id:
rs981044073
gnomAD v2:
2-189923699-C-G
gnomAD v3:
2-189058973-C-G
gnomAD v4:
2-189058973-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058973C>G , CM000664.2:g.189058973C>G | GRCh38 |
| NC_000002.11:g.189923699C>G , CM000664.1:g.189923699C>G | GRCh37 |
| NC_000002.10:g.189631944C>G | NCBI36 |
| NG_011799.1:g.125907G>C | |
| NG_011799.2:g.125907G>C | |
| NG_011799.3:g.171329G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2086-80G>C MANE Select | ENSP00000364000.3:n.2086-80G>C | |
| ENST00000374866.7:c.2086-80G>C | ENSP00000364000.3:n.2086-80G>C | |
| ENST00000470524.2:n.192-80G>C | ||
| ENST00000618828.1:c.925-80G>C | ENSP00000482184.1:n.925-80G>C | |
| NM_000393.3:c.2086-80G>C | NP_000384.2:n.2086-80G>C | |
| XM_011510573.1:c.1948-80G>C | XP_011508875.1:n.1948-80G>C | |
| NM_000393.4:c.2086-80G>C | NP_000384.2:n.2086-80G>C | |
| XM_011510573.3:c.1948-80G>C | XP_011508875.1:n.1948-80G>C | |
| NM_000393.5:c.2086-80G>C MANE Select | NP_000384.2:n.2086-80G>C |