Linked Data
dbSNP Id:
rs752445432
ExAC:
11:2190992 G / C
gnomAD v2:
11-2190992-G-C
gnomAD v3:
11-2169762-G-C
gnomAD v4:
11-2169762-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169762G>C , CM000673.2:g.2169762G>C | GRCh38 |
| NC_000011.9:g.2190992G>C , CM000673.1:g.2190992G>C | GRCh37 |
| NC_000011.8:g.2147568G>C | NCBI36 |
| NG_008128.1:g.7044C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352909.8:c.200C>G MANE Select | ENSP00000325951.4:p.Pro67Arg | |
| ENST00000324155.8:c.91-67C>G | ENSP00000325831.3:n.91-67C>G | |
| ENST00000333684.9:c.200C>G | ENSP00000328814.6:p.Pro67Arg | |
| ENST00000352909.7:c.200C>G | ENSP00000325951.3:p.Pro67Arg | |
| ENST00000381168.7:c.103-67C>G | ENSP00000370560.3:n.103-67C>G | |
| ENST00000381175.5:c.281C>G | ENSP00000370567.1:p.Pro94Arg | |
| ENST00000381178.5:c.293C>G | ENSP00000370571.1:p.Pro98Arg | |
| NM_000360.3:c.200C>G | NP_000351.2:p.Pro67Arg | |
| NM_199292.2:c.293C>G | NP_954986.2:p.Pro98Arg | |
| NM_199293.2:c.281C>G | NP_954987.2:p.Pro94Arg | |
| XM_011520335.1:c.212C>G | XP_011518637.1:p.Pro71Arg | |
| XM_011520335.2:c.212C>G | XP_011518637.1:p.Pro71Arg | |
| NM_000360.4:c.200C>G MANE Select | NP_000351.2:p.Pro67Arg | |
| NM_199292.3:c.293C>G | NP_954986.2:p.Pro98Arg | |
| NM_199293.3:c.281C>G | NP_954987.2:p.Pro94Arg |