Linked Data
dbSNP Id:
rs2137927707
gnomAD v4:
13-75309988-T-C
MyVariant Identifiers:
chr13:g.75884124T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75309988T>C , CM000675.2:g.75309988T>C | GRCh38 |
| NC_000013.10:g.75884124T>C , CM000675.1:g.75884124T>C | GRCh37 |
| NC_000013.9:g.74782125T>C | NCBI36 |
| NG_042850.1:g.177181A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377636.8:c.2547A>G MANE Select | ENSP00000366863.3:p.Gln849= | |
| ENST00000648194.1:c.1815A>G | ENSP00000496983.1:p.Gln605= | |
| ENST00000377625.6:c.2358A>G | ENSP00000366852.2:p.Gln786= | |
| ENST00000377636.7:c.2547A>G | ENSP00000366863.3:p.Gln849= | |
| ENST00000431480.6:c.2523A>G | ENSP00000395986.2:p.Gln841= | |
| ENST00000493487.1:n.406A>G | ||
| NM_001286658.1:c.2523A>G | NP_001273587.1:p.Gln841= | |
| NM_001286658.2:c.2523A>G | NP_001273587.1:p.Gln841= | |
| NM_001286659.1:c.2358A>G | NP_001273588.1:p.Gln786= | |
| NM_001286659.2:c.2358A>G | NP_001273588.1:p.Gln786= | |
| NM_014832.3:c.2547A>G | NP_055647.2:p.Gln849= | |
| NM_014832.4:c.2547A>G | NP_055647.2:p.Gln849= | |
| XM_005266603.1:c.2472A>G | XP_005266660.1:p.Gln824= | |
| XM_005266605.1:c.2004A>G | XP_005266662.1:p.Gln668= | |
| XM_006719903.2:c.2073A>G | XP_006719966.1:p.Gln691= | |
| XM_011535331.1:c.2436A>G | XP_011533633.1:p.Gln812= | |
| XM_005266603.2:c.2472A>G | XP_005266660.1:p.Gln824= | |
| XM_005266605.3:c.2004A>G | XP_005266662.1:p.Gln668= | |
| XM_006719903.3:c.2073A>G | XP_006719966.1:p.Gln691= | |
| XM_011535331.2:c.2436A>G | XP_011533633.1:p.Gln812= | |
| XM_017020882.2:c.1815A>G | XP_016876371.1:p.Gln605= | |
| XM_017020883.2:c.1704A>G | XP_016876372.1:p.Gln568= | |
| XM_017020884.2:c.114A>G | XP_016876373.1:p.Gln38= | |
| NM_014832.5:c.2547A>G MANE Select | NP_055647.2:p.Gln849= |