Linked Data
dbSNP Id:
rs11192423
gnomAD v2:
10-83839893-G-T
gnomAD v3:
10-82080137-G-T
gnomAD v4:
10-82080137-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.82080137G>T , CM000672.2:g.82080137G>T | GRCh38 |
| NC_000010.10:g.83839893G>T , CM000672.1:g.83839893G>T | GRCh37 |
| NC_000010.9:g.83829873G>T | NCBI36 |
| NG_013373.1:g.209824G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372141.7:c.823+203974G>T MANE Select | ENSP00000361214.2:n.823+203974G>T | |
| ENST00000372141.6:c.823+203974G>T | ENSP00000361214.2:n.823+203974G>T | |
| ENST00000372142.6:c.61-86590G>T | ENSP00000361215.2:n.61-86590G>T | |
| ENST00000404547.5:c.823+203974G>T | ENSP00000384796.1:n.823+203974G>T | |
| ENST00000404576.6:c.136-86590G>T | ENSP00000385804.2:n.136-86590G>T | |
| ENST00000555784.5:c.135+202042G>T | ENSP00000451858.1:n.135+202042G>T | |
| ENST00000556918.5:c.136-86590G>T | ENSP00000451376.1:n.136-86590G>T | |
| ENST00000602794.5:c.*371+190472G>T | ENSP00000473669.1:n.*371+190472G>T | |
| NM_001010848.3:c.823+203974G>T | NP_001010848.2:n.823+203974G>T | |
| NM_001165972.1:c.823+203974G>T | NP_001159444.1:n.823+203974G>T | |
| NM_001165973.1:c.61-86590G>T | NP_001159445.1:n.61-86590G>T | |
| XM_005269444.3:c.823+203974G>T | XP_005269501.1:n.823+203974G>T | |
| XM_011539172.1:c.823+203974G>T | XP_011537474.1:n.823+203974G>T | |
| XM_011539173.1:c.823+203974G>T | XP_011537475.1:n.823+203974G>T | |
| XM_011539174.1:c.823+203974G>T | XP_011537476.1:n.823+203974G>T | |
| XM_011539175.1:c.823+203974G>T | XP_011537477.1:n.823+203974G>T | |
| XM_005269444.5:c.823+203974G>T | XP_005269501.1:n.823+203974G>T | |
| XM_011539172.3:c.823+203974G>T | XP_011537474.1:n.823+203974G>T | |
| XM_011539173.3:c.823+203974G>T | XP_011537475.1:n.823+203974G>T | |
| XM_011539175.3:c.823+203974G>T | XP_011537477.1:n.823+203974G>T | |
| XM_017015573.2:c.824-152605G>T | XP_016871062.1:n.824-152605G>T | |
| XM_017015574.2:c.824-152605G>T | XP_016871063.1:n.824-152605G>T | |
| XM_017015575.2:c.824-152605G>T | XP_016871064.1:n.824-152605G>T | |
| XM_017015576.2:c.824-152605G>T | XP_016871065.1:n.824-152605G>T | |
| XM_017015577.2:c.824-152605G>T | XP_016871066.1:n.824-152605G>T | |
| XM_017015578.2:c.824-152605G>T | XP_016871067.1:n.824-152605G>T | |
| XM_017015579.2:c.824-152605G>T | XP_016871068.1:n.824-152605G>T | |
| XM_017015580.2:c.824-152605G>T | XP_016871069.1:n.824-152605G>T | |
| XM_017015581.2:c.823+203974G>T | XP_016871070.1:n.823+203974G>T | |
| XM_017015584.2:c.824-152605G>T | XP_016871073.1:n.824-152605G>T | |
| XR_001747009.2:n.975-152605G>T | ||
| NM_001010848.4:c.823+203974G>T MANE Select | NP_001010848.2:n.823+203974G>T | |
| NM_001370081.1:c.823+203974G>T | NP_001357010.1:n.823+203974G>T | |
| NM_001370082.1:c.79-86590G>T | NP_001357011.1:n.79-86590G>T | |
| NM_001370083.1:c.823+203974G>T | NP_001357012.1:n.823+203974G>T | |
| NM_001370084.1:c.823+203974G>T | NP_001357013.1:n.823+203974G>T | |
| NR_163251.1:n.971-71266G>T | ||
| NR_163252.1:n.409+202042G>T | ||
| NR_163253.1:n.810+190472G>T | ||
| NM_001165973.2:c.61-86590G>T | NP_001159445.1:n.61-86590G>T |