Linked Data
dbSNP Id:
rs1659354451
gnomAD v4:
1-102946939-A-G
MyVariant Identifiers:
chr1:g.103412495A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946939A>G , CM000663.2:g.102946939A>G | GRCh38 |
| NC_000001.10:g.103412495A>G , CM000663.1:g.103412495A>G | GRCh37 |
| NC_000001.9:g.103185083A>G | NCBI36 |
| NG_008033.1:g.166558T>C | |
| NG_008033.2:g.166558T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3186T>C MANE Select | ENSP00000359114.3:p.Arg1062= | |
| ENST00000353414.8:c.3069T>C | ENSP00000302551.6:p.Arg1023= | |
| ENST00000358392.6:c.3222T>C | ENSP00000351163.2:p.Arg1074= | |
| ENST00000370096.7:c.3186T>C | ENSP00000359114.3:p.Arg1062= | |
| ENST00000512756.5:c.2838T>C | ENSP00000426533.1:p.Arg946= | |
| ENST00000635193.1:c.2520T>C | ||
| NM_001190709.1:c.3069T>C | NP_001177638.1:p.Arg1023= | |
| NM_001854.3:c.3186T>C | NP_001845.3:p.Arg1062= | |
| NM_080629.2:c.3222T>C | NP_542196.2:p.Arg1074= | |
| NM_080630.3:c.2838T>C | NP_542197.3:p.Arg946= | |
| XM_011540719.1:c.3186T>C | XP_011539021.1:p.Arg1062= | |
| XM_011540720.1:c.1419T>C | XP_011539022.1:p.Arg473= | |
| XM_011540721.1:c.774T>C | XP_011539023.1:p.Arg258= | |
| NR_134980.1:n.3520T>C | ||
| XM_017000334.1:c.3339T>C | XP_016855823.1:p.Arg1113= | |
| XM_017000335.1:c.3333T>C | XP_016855824.1:p.Arg1111= | |
| XM_017000336.1:c.3339T>C | XP_016855825.1:p.Arg1113= | |
| XM_017000337.1:c.1737T>C | XP_016855826.1:p.Arg579= | |
| NM_001854.4:c.3186T>C MANE Select | NP_001845.3:p.Arg1062= | |
| NM_080630.4:c.2838T>C | NP_542197.3:p.Arg946= | |
| NR_134980.2:n.3546T>C | ||
| NM_001190709.2:c.3069T>C | NP_001177638.1:p.Arg1023= | |
| NM_080629.3:c.3222T>C | NP_542196.2:p.Arg1074= |