Linked Data
dbSNP Id:
rs1939966262
gnomAD v4:
12-53429941-G-A
MyVariant Identifiers:
chr12:g.53823725G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429941G>A , CM000674.2:g.53429941G>A | GRCh38 |
| NC_000012.11:g.53823725G>A , CM000674.1:g.53823725G>A | GRCh37 |
| NC_000012.10:g.52109992G>A | NCBI36 |
| NG_015981.1:g.11087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1251G>A MANE Select | ENSP00000257863.3:p.Leu417= | |
| ENST00000257863.8:c.1251G>A | ENSP00000257863.3:p.Leu417= | |
| ENST00000379791.7:c.1140+316G>A | ENSP00000369117.3:n.1140+316G>A | |
| ENST00000550311.5:c.1251G>A | ENSP00000446661.1:p.Leu417= | |
| ENST00000550839.1:c.342G>A | ENSP00000455338.1:p.Leu114= | |
| ENST00000552233.5:n.839G>A | ||
| NM_001164690.1:c.1251G>A | NP_001158162.1:p.Leu417= | |
| NM_001164691.1:c.1140+316G>A | NP_001158163.1:n.1140+316G>A | |
| NM_020547.2:c.1251G>A | NP_065434.1:p.Leu417= | |
| XM_011538173.1:c.1311G>A | XP_011536475.1:p.Leu437= | |
| XM_011538174.1:c.1308G>A | XP_011536476.1:p.Leu436= | |
| XM_011538175.1:c.1293G>A | XP_011536477.1:p.Leu431= | |
| XM_011538176.1:c.1254G>A | XP_011536478.1:p.Leu418= | |
| XM_011538177.1:c.1233G>A | XP_011536479.1:p.Leu411= | |
| XM_011538178.1:c.1092G>A | XP_011536480.1:p.Leu364= | |
| XM_011538179.1:c.1200+316G>A | XP_011536481.1:n.1200+316G>A | |
| XM_011538180.1:c.978G>A | XP_011536482.1:p.Leu326= | |
| XM_011538181.1:c.975G>A | XP_011536483.1:p.Leu325= | |
| XM_011538182.1:c.900G>A | XP_011536484.1:p.Leu300= | |
| XM_011538183.1:c.1201-205G>A | XP_011536485.1:n.1201-205G>A | |
| XM_011538184.1:c.1220+296G>A | XP_011536486.1:n.1220+296G>A | |
| XM_011538185.1:c.856-1236G>A | XP_011536487.1:n.856-1236G>A | |
| XM_011538186.1:c.426G>A | XP_011536488.1:p.Leu142= | |
| NM_001164690.2:c.1251G>A | NP_001158162.1:p.Leu417= | |
| NM_001164691.2:c.1140+316G>A | NP_001158163.1:n.1140+316G>A | |
| NM_020547.3:c.1251G>A MANE Select | NP_065434.1:p.Leu417= | |
| XM_011538183.2:c.1201-205G>A | XP_011536485.1:n.1201-205G>A | |
| XM_011538184.2:c.1220+296G>A | XP_011536486.1:n.1220+296G>A | |
| XM_011538186.3:c.426G>A | XP_011536488.1:p.Leu142= | |
| XM_017019179.2:c.1311G>A | XP_016874668.1:p.Leu437= | |
| XM_024448938.1:c.1143+316G>A | XP_024304706.1:n.1143+316G>A | |
| XR_002957309.1:n.1219G>A | ||
| XR_002957310.1:n.1109-205G>A | ||
| XR_002957311.1:n.1219G>A | ||
| XR_002957312.1:n.1108+316G>A |