Linked Data
ClinVar Variation Id:
1139556
ClinVar RCV Id:
RCV001476277
dbSNP Id:
rs202167640
MyVariant Identifiers:
chr11:g.2191096C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169866C>G , CM000673.2:g.2169866C>G | GRCh38 |
| NC_000011.9:g.2191096C>G , CM000673.1:g.2191096C>G | GRCh37 |
| NC_000011.8:g.2147672C>G | NCBI36 |
| NG_008128.1:g.6940G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.96G>C MANE Select | ENSP00000325951.4:p.Pro32= | |
| ENST00000324155.8:c.91-171G>C | ENSP00000325831.3:n.91-171G>C | |
| ENST00000333684.9:c.96G>C | ENSP00000328814.6:p.Pro32= | |
| ENST00000352909.7:c.96G>C | ENSP00000325951.3:p.Pro32= | |
| ENST00000381168.7:c.103-171G>C | ENSP00000370560.3:n.103-171G>C | |
| ENST00000381175.5:c.177G>C | ENSP00000370567.1:p.Pro59= | |
| ENST00000381178.5:c.189G>C | ENSP00000370571.1:p.Pro63= | |
| NM_000360.3:c.96G>C | NP_000351.2:p.Pro32= | |
| NM_199292.2:c.189G>C | NP_954986.2:p.Pro63= | |
| NM_199293.2:c.177G>C | NP_954987.2:p.Pro59= | |
| XM_011520335.1:c.108G>C | XP_011518637.1:p.Pro36= | |
| XM_011520335.2:c.108G>C | XP_011518637.1:p.Pro36= | |
| NM_000360.4:c.96G>C MANE Select | NP_000351.2:p.Pro32= | |
| NM_199292.3:c.189G>C | NP_954986.2:p.Pro63= | |
| NM_199293.3:c.177G>C | NP_954987.2:p.Pro59= |