Linked Data
ClinVar Variation Id:
10374
dbSNP Id:
rs2515904
gnomAD v2:
X-153762771-G-C
gnomAD v3:
X-154534556-G-C
gnomAD v4:
X-154534556-G-C
PubMed:
PMID:472761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154534556G>C , CM000685.2:g.154534556G>C | GRCh38 |
| NC_000023.10:g.153762771G>C , CM000685.1:g.153762771G>C | GRCh37 |
| NC_000023.9:g.153415965G>C | NCBI36 |
| NG_009015.2:g.18017C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393564.7:c.486-60C>G | ENSP00000377194.2:n.486-60C>G | |
| ENST00000439227.6:c.486-57C>G | ENSP00000395599.2:n.486-57C>G | |
| ENST00000696420.1:c.486-60C>G | ENSP00000512615.1:n.486-60C>G | |
| ENST00000696421.1:c.486-60C>G | ENSP00000512616.1:n.486-60C>G | |
| ENST00000696422.1:c.349-60C>G | ||
| ENST00000696423.1:c.349-57C>G | ||
| ENST00000696424.1:c.366-60C>G | ENSP00000512619.1:n.366-60C>G | |
| ENST00000696425.1:c.486-60C>G | ENSP00000512620.1:n.486-60C>G | |
| ENST00000696426.1:c.486-60C>G | ENSP00000512621.1:n.486-60C>G | |
| ENST00000696427.1:c.486-60C>G | ENSP00000512622.1:n.486-60C>G | |
| ENST00000696428.1:c.*328-60C>G | ENSP00000512623.1:n.*328-60C>G | |
| ENST00000696429.1:c.486-60C>G | ENSP00000512624.1:n.486-60C>G | |
| ENST00000696430.1:c.486-60C>G | ENSP00000512625.1:n.486-60C>G | |
| ENST00000393562.10:c.486-60C>G MANE Select | ENSP00000377192.3:n.486-60C>G | |
| ENST00000369620.6:c.486-60C>G | ENSP00000358633.2:n.486-60C>G | |
| ENST00000393562.6:c.576-60C>G | ENSP00000377192.2:n.576-60C>G | |
| ENST00000393564.6:c.486-60C>G | ENSP00000377194.2:n.486-60C>G | |
| ENST00000433845.1:c.486-60C>G | ENSP00000394690.1:n.486-60C>G | |
| ENST00000439227.5:c.486-57C>G | ENSP00000395599.1:n.486-57C>G | |
| ENST00000440967.5:c.486-57C>G | ENSP00000400648.1:n.486-57C>G | |
| ENST00000621232.4:c.486-60C>G | ENSP00000483686.1:n.486-60C>G | |
| NM_000402.4:c.576-60C>G | NP_000393.4:n.576-60C>G | |
| NM_001042351.2:c.486-60C>G | NP_001035810.1:n.486-60C>G | |
| XM_005274657.2:c.576-57C>G | XP_005274714.1:n.576-57C>G | |
| XM_005274658.2:c.486-57C>G | XP_005274715.1:n.486-57C>G | |
| XM_011531132.1:c.576-57C>G | XP_011529434.1:n.576-57C>G | |
| NM_001360016.2:c.486-60C>G MANE Select | NP_001346945.1:n.486-60C>G | |
| NM_001042351.3:c.486-60C>G | NP_001035810.1:n.486-60C>G |