Linked Data
dbSNP Id:
rs139630636
ExAC:
10:105921760 C / T
gnomAD v2:
10-105921760-C-T
gnomAD v3:
10-104162002-C-T
gnomAD v4:
10-104162002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162002C>T , CM000672.2:g.104162002C>T | GRCh38 |
| NC_000010.10:g.105921760C>T , CM000672.1:g.105921760C>T | GRCh37 |
| NC_000010.9:g.105911750C>T | NCBI36 |
| NG_051581.1:g.75376G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3373G>A MANE Select | ENSP00000349568.3:p.Gly1125Arg | |
| ENST00000357060.7:c.3373G>A | ENSP00000349568.3:p.Gly1125Arg | |
| ENST00000434629.5:c.1455G>A | ||
| NM_025145.5:c.3373G>A | NP_079421.5:p.Gly1125Arg | |
| XM_005270171.1:c.3376G>A | XP_005270228.1:p.Gly1126Arg | |
| XM_005270172.2:c.3376G>A | XP_005270229.1:p.Gly1126Arg | |
| XM_011540196.1:c.3490G>A | XP_011538498.1:p.Gly1164Arg | |
| XM_011540197.1:c.3490G>A | XP_011538499.1:p.Gly1164Arg | |
| XM_011540198.1:c.3373G>A | XP_011538500.1:p.Gly1125Arg | |
| XM_011540199.1:c.3373G>A | XP_011538501.1:p.Gly1125Arg | |
| XM_011540200.1:c.3490G>A | XP_011538502.1:p.Gly1164Arg | |
| XM_011540201.1:c.3490G>A | XP_011538503.1:p.Gly1164Arg | |
| XM_011540202.1:c.2719G>A | XP_011538504.1:p.Gly907Arg | |
| XM_011540203.1:c.1273G>A | XP_011538505.1:p.Gly425Arg | |
| NM_025145.6:c.3373G>A | NP_079421.5:p.Gly1125Arg | |
| XM_005270171.2:c.3376G>A | XP_005270228.1:p.Gly1126Arg | |
| XM_005270172.3:c.3376G>A | XP_005270229.1:p.Gly1126Arg | |
| XM_011540196.2:c.3490G>A | XP_011538498.1:p.Gly1164Arg | |
| XM_011540197.2:c.3490G>A | XP_011538499.1:p.Gly1164Arg | |
| XM_011540198.2:c.3373G>A | XP_011538500.1:p.Gly1125Arg | |
| XM_011540199.2:c.3373G>A | XP_011538501.1:p.Gly1125Arg | |
| XM_011540200.2:c.3490G>A | XP_011538502.1:p.Gly1164Arg | |
| XM_011540201.2:c.3490G>A | XP_011538503.1:p.Gly1164Arg | |
| XM_011540202.2:c.2719G>A | XP_011538504.1:p.Gly907Arg | |
| XM_017016681.1:c.3487G>A | XP_016872170.1:p.Gly1163Arg | |
| XM_017016682.1:c.3142G>A | XP_016872171.1:p.Gly1048Arg | |
| XM_024448177.1:c.1876G>A | XP_024303945.1:p.Gly626Arg | |
| XM_024448178.1:c.1273G>A | XP_024303946.1:p.Gly425Arg | |
| XR_002957015.1:n.3259G>A | ||
| NM_025145.7:c.3373G>A MANE Select | NP_079421.5:p.Gly1125Arg |