Linked Data
dbSNP Id:
rs782222558
ExAC:
11:70319376 C / A
gnomAD v3:
11-70473271-C-A
gnomAD v4:
11-70473271-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473271C>A , CM000673.2:g.70473271C>A | GRCh38 |
| NC_000011.9:g.70319376C>A , CM000673.1:g.70319376C>A | GRCh37 |
| NC_000011.8:g.69997024C>A | NCBI36 |
| NG_042866.1:g.656526G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3381G>T | ENSP00000345193.7:p.Glu1127Asp | |
| ENST00000412252.6:c.926G>T | ENSP00000414876.2:n.926G>T | |
| ENST00000601538.6:c.5148G>T MANE Select | ENSP00000469689.2:p.Glu1716Asp | |
| ENST00000654939.1:c.2657G>T | ||
| ENST00000656230.1:c.4011G>T | ENSP00000499561.1:p.Glu1337Asp | |
| ENST00000659264.1:c.3438G>T | ENSP00000499270.1:p.Glu1146Asp | |
| ENST00000338508.8:c.3384G>T | ENSP00000345193.6:p.Glu1128Asp | |
| ENST00000357171.7:c.*152G>T | ENSP00000349694.4:n.*152G>T | |
| ENST00000409161.5:c.3360G>T | ENSP00000386491.1:p.Glu1120Asp | |
| ENST00000412252.5:c.924G>T | ||
| ENST00000423696.6:c.4011G>T | ENSP00000394536.2:p.Glu1337Asp | |
| ENST00000424924.5:c.2985G>T | ENSP00000402944.1:p.Glu995Asp | |
| ENST00000449833.6:c.3384G>T | ENSP00000399423.3:p.Glu1128Asp | |
| ENST00000601538.5:c.5148G>T | ENSP00000469689.2:p.Glu1716Asp | |
| ENST00000606715.3:n.1900G>T | ||
| NM_012309.4:c.5148G>T | NP_036441.2:p.Glu1716Asp | |
| NM_133266.4:c.3384G>T | NP_573573.2:p.Glu1128Asp | |
| NR_110766.1:n.1002G>T | ||
| XM_005277930.2:c.5148G>T | XP_005277987.1:p.Glu1716Asp | |
| XM_005277932.2:c.4011G>T | XP_005277989.1:p.Glu1337Asp | |
| XM_006718478.2:c.5118G>T | XP_006718541.1:p.Glu1706Asp | |
| XM_011544854.1:c.5160G>T | XP_011543156.1:p.Glu1720Asp | |
| XM_011544855.1:c.5139G>T | XP_011543157.1:p.Glu1713Asp | |
| XM_011544856.1:c.5133G>T | XP_011543158.1:p.Glu1711Asp | |
| XM_011544857.1:c.5112G>T | XP_011543159.1:p.Glu1704Asp | |
| XM_011544859.1:c.4023G>T | XP_011543161.1:p.Glu1341Asp | |
| XM_005277932.3:c.4011G>T | XP_005277989.1:p.Glu1337Asp | |
| XM_017017387.1:c.5148G>T | XP_016872876.1:p.Glu1716Asp | |
| XM_017017388.1:c.5148G>T | XP_016872877.1:p.Glu1716Asp | |
| XM_017017389.1:c.5121G>T | XP_016872878.1:p.Glu1707Asp | |
| XM_017017390.1:c.3438G>T | XP_016872879.1:p.Glu1146Asp | |
| NM_133266.5:c.3384G>T | NP_573573.2:p.Glu1128Asp | |
| NR_110766.2:n.1003G>T | ||
| NM_001379226.1:c.4011G>T | NP_001366155.1:p.Glu1337Asp | |
| NM_012309.5:c.5148G>T MANE Select | NP_036441.2:p.Glu1716Asp |