Linked Data
ClinVar Variation Id:
1238195
ClinVar RCV Id:
RCV001638598
dbSNP Id:
rs11110912
gnomAD v2:
12-102042213-C-G
gnomAD v3:
12-101648435-C-G
gnomAD v4:
12-101648435-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101648435C>G , CM000674.2:g.101648435C>G | GRCh38 |
| NC_000012.11:g.102042213C>G , CM000674.1:g.102042213C>G | GRCh37 |
| NC_000012.10:g.100566344C>G | NCBI36 |
| NG_031912.1:g.58505C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361466.7:c.1196+285C>G MANE Select | ENSP00000354849.2:n.1196+285C>G | |
| ENST00000361466.6:c.1196+285C>G | ENSP00000354849.2:n.1196+285C>G | |
| ENST00000361685.6:c.1196+285C>G | ENSP00000354845.2:n.1196+285C>G | |
| ENST00000392934.7:c.1082+285C>G | ENSP00000376665.3:n.1082+285C>G | |
| ENST00000441232.5:c.1196+285C>G | ENSP00000388989.3:n.1196+285C>G | |
| ENST00000452455.6:c.1121+285C>G | ENSP00000400908.2:n.1121+285C>G | |
| ENST00000536007.5:c.1064+285C>G | ENSP00000446128.1:n.1064+285C>G | |
| ENST00000541119.5:c.1085+285C>G | ENSP00000442847.1:n.1085+285C>G | |
| ENST00000545503.6:c.1121+285C>G | ENSP00000440034.2:n.1121+285C>G | |
| ENST00000547405.5:c.1043+285C>G | ENSP00000448175.1:n.1043+285C>G | |
| ENST00000547509.5:c.1079+285C>G | ENSP00000447362.1:n.1079+285C>G | |
| ENST00000549145.5:c.1160+285C>G | ENSP00000447660.1:n.1160+285C>G | |
| ENST00000550270.1:c.1121+285C>G | ENSP00000449702.1:n.1121+285C>G | |
| ENST00000550501.3:n.574+33491C>G | ||
| ENST00000551300.5:c.824+285C>G | ENSP00000447116.1:n.824+285C>G | |
| ENST00000553190.5:c.1121+285C>G | ENSP00000447900.1:n.1121+285C>G | |
| NM_001254718.1:c.1121+285C>G | NP_001241647.1:n.1121+285C>G | |
| NM_001254719.1:c.1121+285C>G | NP_001241648.1:n.1121+285C>G | |
| NM_001254720.1:c.1085+285C>G | NP_001241649.1:n.1085+285C>G | |
| NM_001254721.1:c.1064+285C>G | NP_001241650.1:n.1064+285C>G | |
| NM_001254722.1:c.1043+285C>G | NP_001241651.1:n.1043+285C>G | |
| NM_001254723.1:c.1082+285C>G | NP_001241652.1:n.1082+285C>G | |
| NM_002465.3:c.1196+285C>G | NP_002456.2:n.1196+285C>G | |
| NM_206819.2:c.1196+285C>G | NP_996555.1:n.1196+285C>G | |
| NM_206820.2:c.1121+285C>G | NP_996556.1:n.1121+285C>G | |
| NM_206821.2:c.1121+285C>G | NP_996557.1:n.1121+285C>G | |
| XM_005268876.3:c.1160+285C>G | XP_005268933.1:n.1160+285C>G | |
| XM_006719405.2:c.1196+285C>G | XP_006719468.1:n.1196+285C>G | |
| XM_006719406.2:c.1196+285C>G | XP_006719469.1:n.1196+285C>G | |
| XM_006719407.2:c.1160+285C>G | XP_006719470.1:n.1160+285C>G | |
| XM_006719408.2:c.1196+285C>G | XP_006719471.1:n.1196+285C>G | |
| XM_006719409.2:c.1121+285C>G | XP_006719472.1:n.1121+285C>G | |
| XM_006719410.2:c.1196+285C>G | XP_006719473.1:n.1196+285C>G | |
| XM_006719411.2:c.1121+285C>G | XP_006719474.1:n.1121+285C>G | |
| XM_005268876.4:c.1160+285C>G | XP_005268933.1:n.1160+285C>G | |
| XM_006719405.4:c.1196+285C>G | XP_006719468.1:n.1196+285C>G | |
| XM_006719406.4:c.1196+285C>G | XP_006719469.1:n.1196+285C>G | |
| XM_006719407.3:c.1160+285C>G | XP_006719470.1:n.1160+285C>G | |
| XM_006719408.4:c.1196+285C>G | XP_006719471.1:n.1196+285C>G | |
| XM_006719409.3:c.1121+285C>G | XP_006719472.1:n.1121+285C>G | |
| XM_006719410.4:c.1196+285C>G | XP_006719473.1:n.1196+285C>G | |
| XM_006719411.3:c.1121+285C>G | XP_006719474.1:n.1121+285C>G | |
| XM_017019315.2:c.1139+285C>G | XP_016874804.1:n.1139+285C>G | |
| XM_017019316.2:c.1196+285C>G | XP_016874805.1:n.1196+285C>G | |
| XM_017019317.1:c.1121+285C>G | XP_016874806.1:n.1121+285C>G | |
| XM_017019318.2:c.1139+285C>G | XP_016874807.1:n.1139+285C>G | |
| XM_017019319.2:c.1064+285C>G | XP_016874808.1:n.1064+285C>G | |
| XM_017019320.1:c.1043+285C>G | XP_016874809.1:n.1043+285C>G | |
| XM_017019321.2:c.1064+285C>G | XP_016874810.1:n.1064+285C>G | |
| XM_017019322.1:c.986+285C>G | XP_016874811.1:n.986+285C>G | |
| XR_001749282.1:n.398-1407G>C | ||
| NM_002465.4:c.1196+285C>G MANE Select | NP_002456.2:n.1196+285C>G | |
| NM_001254718.2:c.1121+285C>G | NP_001241647.1:n.1121+285C>G | |
| NM_001254719.2:c.1121+285C>G | NP_001241648.1:n.1121+285C>G | |
| NM_001254720.2:c.1085+285C>G | NP_001241649.1:n.1085+285C>G | |
| NM_001254721.2:c.1064+285C>G | NP_001241650.1:n.1064+285C>G | |
| NM_001254722.2:c.1043+285C>G | NP_001241651.1:n.1043+285C>G | |
| NM_001254723.2:c.1082+285C>G | NP_001241652.1:n.1082+285C>G | |
| NM_206819.3:c.1196+285C>G | NP_996555.1:n.1196+285C>G | |
| NM_206820.3:c.1121+285C>G | NP_996556.1:n.1121+285C>G | |
| NM_206821.3:c.1121+285C>G | NP_996557.1:n.1121+285C>G |