Linked Data
dbSNP Id:
rs545316683
ExAC:
10:105922093 C / A
gnomAD v2:
10-105922093-C-A
gnomAD v3:
10-104162335-C-A
gnomAD v4:
10-104162335-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162335C>A , CM000672.2:g.104162335C>A | GRCh38 |
| NC_000010.10:g.105922093C>A , CM000672.1:g.105922093C>A | GRCh37 |
| NC_000010.9:g.105912083C>A | NCBI36 |
| NG_051581.1:g.75043G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3315G>T MANE Select | ENSP00000349568.3:p.Glu1105Asp | |
| ENST00000357060.7:c.3315G>T | ENSP00000349568.3:p.Glu1105Asp | |
| ENST00000434629.5:c.1397G>T | ||
| NM_025145.5:c.3315G>T | NP_079421.5:p.Glu1105Asp | |
| XM_005270171.1:c.3318G>T | XP_005270228.1:p.Glu1106Asp | |
| XM_005270172.2:c.3318G>T | XP_005270229.1:p.Glu1106Asp | |
| XM_011540196.1:c.3432G>T | XP_011538498.1:p.Glu1144Asp | |
| XM_011540197.1:c.3432G>T | XP_011538499.1:p.Glu1144Asp | |
| XM_011540198.1:c.3315G>T | XP_011538500.1:p.Glu1105Asp | |
| XM_011540199.1:c.3315G>T | XP_011538501.1:p.Glu1105Asp | |
| XM_011540200.1:c.3432G>T | XP_011538502.1:p.Glu1144Asp | |
| XM_011540201.1:c.3432G>T | XP_011538503.1:p.Glu1144Asp | |
| XM_011540202.1:c.2661G>T | XP_011538504.1:p.Glu887Asp | |
| XM_011540203.1:c.1215G>T | XP_011538505.1:p.Glu405Asp | |
| NM_025145.6:c.3315G>T | NP_079421.5:p.Glu1105Asp | |
| XM_005270171.2:c.3318G>T | XP_005270228.1:p.Glu1106Asp | |
| XM_005270172.3:c.3318G>T | XP_005270229.1:p.Glu1106Asp | |
| XM_011540196.2:c.3432G>T | XP_011538498.1:p.Glu1144Asp | |
| XM_011540197.2:c.3432G>T | XP_011538499.1:p.Glu1144Asp | |
| XM_011540198.2:c.3315G>T | XP_011538500.1:p.Glu1105Asp | |
| XM_011540199.2:c.3315G>T | XP_011538501.1:p.Glu1105Asp | |
| XM_011540200.2:c.3432G>T | XP_011538502.1:p.Glu1144Asp | |
| XM_011540201.2:c.3432G>T | XP_011538503.1:p.Glu1144Asp | |
| XM_011540202.2:c.2661G>T | XP_011538504.1:p.Glu887Asp | |
| XM_017016681.1:c.3429G>T | XP_016872170.1:p.Glu1143Asp | |
| XM_017016682.1:c.3084G>T | XP_016872171.1:p.Glu1028Asp | |
| XM_024448177.1:c.1818G>T | XP_024303945.1:p.Glu606Asp | |
| XM_024448178.1:c.1215G>T | XP_024303946.1:p.Glu405Asp | |
| XR_002957015.1:n.3201G>T | ||
| NM_025145.7:c.3315G>T MANE Select | NP_079421.5:p.Glu1105Asp |