Linked Data
ClinVar Variation Id:
1031811
ClinVar RCV Id:
RCV001333736
dbSNP Id:
rs752445432
gnomAD v2:
11-2190992-G-A
gnomAD v3:
11-2169762-G-A
gnomAD v4:
11-2169762-G-A
COSMIC:
COSM5372271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169762G>A , CM000673.2:g.2169762G>A | GRCh38 |
| NC_000011.9:g.2190992G>A , CM000673.1:g.2190992G>A | GRCh37 |
| NC_000011.8:g.2147568G>A | NCBI36 |
| NG_008128.1:g.7044C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.200C>T MANE Select | ENSP00000325951.4:p.Pro67Leu | |
| ENST00000324155.8:c.91-67C>T | ENSP00000325831.3:n.91-67C>T | |
| ENST00000333684.9:c.200C>T | ENSP00000328814.6:p.Pro67Leu | |
| ENST00000352909.7:c.200C>T | ENSP00000325951.3:p.Pro67Leu | |
| ENST00000381168.7:c.103-67C>T | ENSP00000370560.3:n.103-67C>T | |
| ENST00000381175.5:c.281C>T | ENSP00000370567.1:p.Pro94Leu | |
| ENST00000381178.5:c.293C>T | ENSP00000370571.1:p.Pro98Leu | |
| NM_000360.3:c.200C>T | NP_000351.2:p.Pro67Leu | |
| NM_199292.2:c.293C>T | NP_954986.2:p.Pro98Leu | |
| NM_199293.2:c.281C>T | NP_954987.2:p.Pro94Leu | |
| XM_011520335.1:c.212C>T | XP_011518637.1:p.Pro71Leu | |
| XM_011520335.2:c.212C>T | XP_011518637.1:p.Pro71Leu | |
| NM_000360.4:c.200C>T MANE Select | NP_000351.2:p.Pro67Leu | |
| NM_199292.3:c.293C>T | NP_954986.2:p.Pro98Leu | |
| NM_199293.3:c.281C>T | NP_954987.2:p.Pro94Leu |