Linked Data
ClinVar Variation Id:
1214165
ClinVar RCV Id:
RCV001581899
dbSNP Id:
rs759784635
gnomAD v4:
1-102946906-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946906T>C , CM000663.2:g.102946906T>C | GRCh38 |
| NC_000001.10:g.103412462T>C , CM000663.1:g.103412462T>C | GRCh37 |
| NC_000001.9:g.103185050T>C | NCBI36 |
| NG_008033.1:g.166591A>G | |
| NG_008033.2:g.166591A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3219A>G MANE Select | ENSP00000359114.3:p.Leu1073= | |
| ENST00000353414.8:c.3102A>G | ENSP00000302551.6:p.Leu1034= | |
| ENST00000358392.6:c.3255A>G | ENSP00000351163.2:p.Leu1085= | |
| ENST00000370096.7:c.3219A>G | ENSP00000359114.3:p.Leu1073= | |
| ENST00000512756.5:c.2871A>G | ENSP00000426533.1:p.Leu957= | |
| ENST00000635193.1:c.2553A>G | ||
| NM_001190709.1:c.3102A>G | NP_001177638.1:p.Leu1034= | |
| NM_001854.3:c.3219A>G | NP_001845.3:p.Leu1073= | |
| NM_080629.2:c.3255A>G | NP_542196.2:p.Leu1085= | |
| NM_080630.3:c.2871A>G | NP_542197.3:p.Leu957= | |
| XM_011540719.1:c.3219A>G | XP_011539021.1:p.Leu1073= | |
| XM_011540720.1:c.1452A>G | XP_011539022.1:p.Leu484= | |
| XM_011540721.1:c.807A>G | XP_011539023.1:p.Leu269= | |
| NR_134980.1:n.3553A>G | ||
| XM_017000334.1:c.3372A>G | XP_016855823.1:p.Leu1124= | |
| XM_017000335.1:c.3366A>G | XP_016855824.1:p.Leu1122= | |
| XM_017000336.1:c.3372A>G | XP_016855825.1:p.Leu1124= | |
| XM_017000337.1:c.1770A>G | XP_016855826.1:p.Leu590= | |
| NM_001854.4:c.3219A>G MANE Select | NP_001845.3:p.Leu1073= | |
| NM_080630.4:c.2871A>G | NP_542197.3:p.Leu957= | |
| NR_134980.2:n.3579A>G | ||
| NM_001190709.2:c.3102A>G | NP_001177638.1:p.Leu1034= | |
| NM_080629.3:c.3255A>G | NP_542196.2:p.Leu1085= |