Linked Data
ClinVar Variation Id:
2883093
ClinVar RCV Id:
RCV003748141
dbSNP Id:
rs953232466
gnomAD v4:
9-136504780-G-C
MyVariant Identifiers:
chr9:g.139399232G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504780G>C , CM000671.2:g.136504780G>C | GRCh38 |
| NC_000009.11:g.139399232G>C , CM000671.1:g.139399232G>C | GRCh37 |
| NC_000009.10:g.138519053G>C | NCBI36 |
| NG_007458.1:g.46007C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2718C>G | ||
| ENST00000651671.1:c.4911C>G MANE Select | ENSP00000498587.1:p.Gly1637= | |
| ENST00000679595.1:c.4911C>G | ENSP00000506241.1:p.Gly1637= | |
| ENST00000680133.1:c.4797C>G | ENSP00000505319.1:p.Gly1599= | |
| ENST00000680218.1:c.4791C>G | ENSP00000505339.1:p.Gly1597= | |
| ENST00000680668.1:c.4797C>G | ENSP00000506336.1:p.Gly1599= | |
| ENST00000680778.1:c.2508C>G | ENSP00000506033.1:p.Gly836= | |
| ENST00000680924.1:c.*2311C>G | ENSP00000506031.1:n.*2311C>G | |
| ENST00000681135.1:c.*2520C>G | ENSP00000506636.1:n.*2520C>G | |
| ENST00000681298.1:n.1724C>G | ||
| ENST00000681454.1:c.*4147C>G | ENSP00000505763.1:n.*4147C>G | |
| ENST00000277541.6:c.4911C>G | ENSP00000277541.6:p.Gly1637= | |
| ENST00000494783.1:n.66C>G | ||
| NM_017617.3:c.4911C>G | NP_060087.3:p.Gly1637= | |
| XM_011518717.1:c.4212C>G | XP_011517019.1:p.Gly1404= | |
| NM_017617.5:c.4911C>G MANE Select | NP_060087.3:p.Gly1637= | |
| XM_011518717.2:c.4188C>G | XP_011517019.2:p.Gly1396= |