Linked Data
dbSNP Id:
rs756715404
ExAC:
11:2187882 G / C
gnomAD v2:
11-2187882-G-C
gnomAD v4:
11-2166652-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166652G>C , CM000673.2:g.2166652G>C | GRCh38 |
| NC_000011.9:g.2187882G>C , CM000673.1:g.2187882G>C | GRCh37 |
| NC_000011.8:g.2144458G>C | NCBI36 |
| NG_008128.1:g.10154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.958C>G MANE Select | ENSP00000325951.4:p.Pro320Ala | |
| ENST00000324155.8:c.*647C>G | ENSP00000325831.3:n.*647C>G | |
| ENST00000333684.9:c.696-103C>G | ENSP00000328814.6:n.696-103C>G | |
| ENST00000352909.7:c.958C>G | ENSP00000325951.3:p.Pro320Ala | |
| ENST00000381168.7:c.*678C>G | ENSP00000370560.3:n.*678C>G | |
| ENST00000381175.5:c.1039C>G | ENSP00000370567.1:p.Pro347Ala | |
| ENST00000381178.5:c.1051C>G | ENSP00000370571.1:p.Pro351Ala | |
| ENST00000412076.1:c.136-103C>G | ||
| ENST00000416223.5:c.252C>G | ||
| ENST00000461172.1:n.123C>G | ||
| ENST00000479437.5:n.507C>G | ||
| NM_000360.3:c.958C>G | NP_000351.2:p.Pro320Ala | |
| NM_199292.2:c.1051C>G | NP_954986.2:p.Pro351Ala | |
| NM_199293.2:c.1039C>G | NP_954987.2:p.Pro347Ala | |
| XM_011520335.1:c.970C>G | XP_011518637.1:p.Pro324Ala | |
| XM_011520335.2:c.970C>G | XP_011518637.1:p.Pro324Ala | |
| NM_000360.4:c.958C>G MANE Select | NP_000351.2:p.Pro320Ala | |
| NM_199292.3:c.1051C>G | NP_954986.2:p.Pro351Ala | |
| NM_199293.3:c.1039C>G | NP_954987.2:p.Pro347Ala |