Linked Data
dbSNP Id:
rs1216175010
gnomAD v2:
10-83819156-G-C
gnomAD v3:
10-82059400-G-C
gnomAD v4:
10-82059400-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.82059400G>C , CM000672.2:g.82059400G>C | GRCh38 |
| NC_000010.10:g.83819156G>C , CM000672.1:g.83819156G>C | GRCh37 |
| NC_000010.9:g.83809136G>C | NCBI36 |
| NG_013373.1:g.189087G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372141.7:c.823+183237G>C MANE Select | ENSP00000361214.2:n.823+183237G>C | |
| ENST00000372141.6:c.823+183237G>C | ENSP00000361214.2:n.823+183237G>C | |
| ENST00000372142.6:c.61-107327G>C | ENSP00000361215.2:n.61-107327G>C | |
| ENST00000404547.5:c.823+183237G>C | ENSP00000384796.1:n.823+183237G>C | |
| ENST00000404576.6:c.136-107327G>C | ENSP00000385804.2:n.136-107327G>C | |
| ENST00000555784.5:c.135+181305G>C | ENSP00000451858.1:n.135+181305G>C | |
| ENST00000556918.5:c.136-107327G>C | ENSP00000451376.1:n.136-107327G>C | |
| ENST00000602794.5:c.*371+169735G>C | ENSP00000473669.1:n.*371+169735G>C | |
| NM_001010848.3:c.823+183237G>C | NP_001010848.2:n.823+183237G>C | |
| NM_001165972.1:c.823+183237G>C | NP_001159444.1:n.823+183237G>C | |
| NM_001165973.1:c.61-107327G>C | NP_001159445.1:n.61-107327G>C | |
| XM_005269444.3:c.823+183237G>C | XP_005269501.1:n.823+183237G>C | |
| XM_011539172.1:c.823+183237G>C | XP_011537474.1:n.823+183237G>C | |
| XM_011539173.1:c.823+183237G>C | XP_011537475.1:n.823+183237G>C | |
| XM_011539174.1:c.823+183237G>C | XP_011537476.1:n.823+183237G>C | |
| XM_011539175.1:c.823+183237G>C | XP_011537477.1:n.823+183237G>C | |
| XM_005269444.5:c.823+183237G>C | XP_005269501.1:n.823+183237G>C | |
| XM_011539172.3:c.823+183237G>C | XP_011537474.1:n.823+183237G>C | |
| XM_011539173.3:c.823+183237G>C | XP_011537475.1:n.823+183237G>C | |
| XM_011539175.3:c.823+183237G>C | XP_011537477.1:n.823+183237G>C | |
| XM_017015573.2:c.824-173342G>C | XP_016871062.1:n.824-173342G>C | |
| XM_017015574.2:c.824-173342G>C | XP_016871063.1:n.824-173342G>C | |
| XM_017015575.2:c.824-173342G>C | XP_016871064.1:n.824-173342G>C | |
| XM_017015576.2:c.824-173342G>C | XP_016871065.1:n.824-173342G>C | |
| XM_017015577.2:c.824-173342G>C | XP_016871066.1:n.824-173342G>C | |
| XM_017015578.2:c.824-173342G>C | XP_016871067.1:n.824-173342G>C | |
| XM_017015579.2:c.824-173342G>C | XP_016871068.1:n.824-173342G>C | |
| XM_017015580.2:c.824-173342G>C | XP_016871069.1:n.824-173342G>C | |
| XM_017015581.2:c.823+183237G>C | XP_016871070.1:n.823+183237G>C | |
| XM_017015584.2:c.824-173342G>C | XP_016871073.1:n.824-173342G>C | |
| XR_001747009.2:n.975-173342G>C | ||
| NM_001010848.4:c.823+183237G>C MANE Select | NP_001010848.2:n.823+183237G>C | |
| NM_001370081.1:c.823+183237G>C | NP_001357010.1:n.823+183237G>C | |
| NM_001370082.1:c.79-107327G>C | NP_001357011.1:n.79-107327G>C | |
| NM_001370083.1:c.823+183237G>C | NP_001357012.1:n.823+183237G>C | |
| NM_001370084.1:c.823+183237G>C | NP_001357013.1:n.823+183237G>C | |
| NR_163251.1:n.971-92003G>C | ||
| NR_163252.1:n.409+181305G>C | ||
| NR_163253.1:n.810+169735G>C | ||
| NM_001165973.2:c.61-107327G>C | NP_001159445.1:n.61-107327G>C |