Linked Data
dbSNP Id:
rs916813625
gnomAD v2:
19-36221011-T-C
gnomAD v3:
19-35730110-T-C
gnomAD v4:
19-35730110-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35730110T>C , CM000681.2:g.35730110T>C | GRCh38 |
| NC_000019.9:g.36221011T>C , CM000681.1:g.36221011T>C | GRCh37 |
| NC_000019.8:g.40912851T>C | NCBI36 |
| NG_052906.1:g.17092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673918.2:c.4995T>C | ENSP00000501283.1:p.Asp1665= | |
| ENST00000674114.2:c.2602T>C | ENSP00000501039.2:n.2602T>C | |
| ENST00000684977.1:c.279T>C | ENSP00000509384.1:p.Asp93= | |
| ENST00000685168.1:c.487T>C | ||
| ENST00000689544.1:n.214T>C | ||
| ENST00000691421.1:c.282T>C | ENSP00000508674.1:p.Asp94= | |
| ENST00000691855.1:c.4603T>C | ||
| ENST00000692961.1:c.5061T>C | ENSP00000509289.1:p.Asp1687= | |
| ENST00000420124.4:c.5061T>C MANE Select | ENSP00000398837.2:p.Asp1687= | |
| ENST00000673918.1:c.4995T>C | ENSP00000501283.1:p.Asp1665= | |
| ENST00000674114.1:c.2383T>C | ||
| ENST00000420124.2:c.5061T>C | ENSP00000398837.1:p.Asp1687= | |
| NM_014727.2:c.5061T>C | NP_055542.1:p.Asp1687= | |
| XM_011527561.1:c.4995T>C | XP_011525863.1:p.Asp1665= | |
| XM_011527562.1:c.5061T>C | XP_011525864.1:p.Asp1687= | |
| XM_011527563.1:c.4785T>C | XP_011525865.1:p.Asp1595= | |
| XM_011527561.2:c.4497T>C | XP_011525863.2:p.Asp1499= | |
| XM_011527562.2:c.5061T>C | XP_011525864.1:p.Asp1687= | |
| XM_017027544.1:c.5061T>C | XP_016883033.1:p.Asp1687= | |
| XM_017027545.1:c.4497T>C | XP_016883034.1:p.Asp1499= | |
| XM_017027546.1:c.2025T>C | XP_016883035.1:p.Asp675= | |
| NM_014727.3:c.5061T>C MANE Select | NP_055542.1:p.Asp1687= |