Linked Data
dbSNP Id:
rs1407589670
gnomAD v2:
5-160757932-A-G
gnomAD v3:
5-161330925-A-G
gnomAD v4:
5-161330925-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161330925A>G , CM000667.2:g.161330925A>G | GRCh38 |
| NC_000005.9:g.160757932A>G , CM000667.1:g.160757932A>G | GRCh37 |
| NC_000005.8:g.160690510A>G | NCBI36 |
| NG_047050.1:g.222200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274547.7:c.1035T>C | ENSP00000274547.2:p.Ala345= | |
| ENST00000393959.6:c.1035T>C MANE Select | ENSP00000377531.1:p.Ala345= | |
| ENST00000674514.1:n.1117T>C | ||
| ENST00000675081.1:c.*494T>C | ENSP00000502207.1:n.*494T>C | |
| ENST00000675303.1:c.1035T>C | ENSP00000502748.1:p.Ala345= | |
| ENST00000675381.1:c.783T>C | ENSP00000501968.1:p.Ala261= | |
| ENST00000675746.1:c.285T>C | ENSP00000502391.1:p.Ala95= | |
| ENST00000675773.1:c.1035T>C | ENSP00000502701.1:p.Ala345= | |
| ENST00000274547.6:c.1035T>C | ENSP00000274547.2:p.Ala345= | |
| ENST00000353437.10:c.1035T>C | ENSP00000274546.6:p.Ala345= | |
| ENST00000393959.5:c.1035T>C | ENSP00000377531.1:p.Ala345= | |
| ENST00000517547.5:c.555T>C | ENSP00000429750.1:p.Ala185= | |
| ENST00000517901.5:c.846T>C | ENSP00000430532.1:p.Ala282= | |
| ENST00000520240.5:c.1035T>C | ENSP00000429320.1:p.Ala345= | |
| ENST00000612710.1:c.846T>C | ENSP00000480066.1:p.Ala282= | |
| NM_000813.2:c.1035T>C | NP_000804.1:p.Ala345= | |
| NM_021911.2:c.1035T>C | NP_068711.1:p.Ala345= | |
| XM_011534501.1:c.285T>C | XP_011532803.1:p.Ala95= | |
| NM_000813.3:c.1035T>C | NP_000804.1:p.Ala345= | |
| NM_001371727.1:c.1035T>C MANE Select | NP_001358656.1:p.Ala345= | |
| NM_021911.3:c.1035T>C | NP_068711.1:p.Ala345= |