MyVariant.info:
GRCh37
chr13:g.95696540C>G
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95044286C>G , CM000675.2:g.95044286C>G | GRCh38 |
| NC_000013.10:g.95696540C>G , CM000675.1:g.95696540C>G | GRCh37 |
| NC_000013.9:g.94494541C>G | NCBI36 |
| NG_050651.1:g.262161G>C | |
| NG_050651.2:g.262161G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471041.2:n.479G>C | ||
| ENST00000643051.1:c.*1520G>C | ENSP00000495513.1:n.*1520G>C | |
| ENST00000643842.1:c.*3655G>C | ENSP00000493861.1:n.*3655G>C | |
| ENST00000645237.2:c.3609G>C MANE Select | ENSP00000494609.1:p.Ala1203= | |
| ENST00000646439.1:c.3468G>C | ENSP00000494751.1:p.Ala1156= | |
| ENST00000376887.8:c.3609G>C | ENSP00000366084.4:p.Ala1203= | |
| ENST00000471041.1:n.493G>C | ||
| ENST00000484109.1:n.44G>C | ||
| NM_001301829.1:c.3468G>C | NP_001288758.1:p.Ala1156= | |
| NM_005845.4:c.3609G>C | NP_005836.2:p.Ala1203= | |
| XM_005254025.2:c.3480G>C | XP_005254082.1:p.Ala1160= | |
| XM_006719914.1:c.3519G>C | XP_006719977.1:p.Ala1173= | |
| XM_011521047.1:c.3060G>C | XP_011519349.1:p.Ala1020= | |
| XM_017020319.1:c.3480G>C | XP_016875808.1:p.Ala1160= | |
| XM_017020321.1:c.2094G>C | XP_016875810.1:p.Ala698= | |
| NM_001301829.2:c.3468G>C | NP_001288758.1:p.Ala1156= | |
| NM_005845.5:c.3609G>C MANE Select | NP_005836.2:p.Ala1203= |