Linked Data
dbSNP Id:
rs1595065
gnomAD v2:
2-212242641-G-A
gnomAD v3:
2-211377916-G-A
gnomAD v4:
2-211377916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211377916G>A , CM000664.2:g.211377916G>A | GRCh38 |
| NC_000002.11:g.212242641G>A , CM000664.1:g.212242641G>A | GRCh37 |
| NC_000002.10:g.211950886G>A | NCBI36 |
| NG_011805.1:g.1165712C>T | |
| NG_011805.2:g.1165713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342788.9:c.*5699C>T MANE Select | ENSP00000342235.4:n.*5699C>T | |
| ENST00000402597.6:c.9500C>T | ENSP00000385565.3:n.9500C>T | |
| ENST00000342788.8:c.*5699C>T | ENSP00000342235.4:n.*5699C>T | |
| ENST00000402597.5:c.*5699C>T | ENSP00000385565.2:n.*5699C>T | |
| ENST00000436443.5:c.*5699C>T | ENSP00000403204.1:n.*5699C>T | |
| NM_001042599.1:c.*5699C>T | NP_001036064.1:n.*5699C>T | |
| NM_005235.2:c.*5699C>T | NP_005226.1:n.*5699C>T | |
| XM_005246375.1:c.*5699C>T | XP_005246432.1:n.*5699C>T | |
| XM_005246376.1:c.*5699C>T | XP_005246433.1:n.*5699C>T | |
| XM_005246377.1:c.*5699C>T | XP_005246434.1:n.*5699C>T | |
| XM_006712364.1:c.*5699C>T | XP_006712427.1:n.*5699C>T | |
| XM_005246376.3:c.*5699C>T | XP_005246433.1:n.*5699C>T | |
| XM_005246377.3:c.*5699C>T | XP_005246434.1:n.*5699C>T | |
| XM_006712364.3:c.*5699C>T | XP_006712427.1:n.*5699C>T | |
| XM_017003577.2:c.*5699C>T | XP_016859066.1:n.*5699C>T | |
| XM_017003578.2:c.*5699C>T | XP_016859067.1:n.*5699C>T | |
| XM_017003579.2:c.*5699C>T | XP_016859068.1:n.*5699C>T | |
| XM_017003580.2:c.*5699C>T | XP_016859069.1:n.*5699C>T | |
| XM_017003581.2:c.*5699C>T | XP_016859070.1:n.*5699C>T | |
| XM_017003582.1:c.*5699C>T | XP_016859071.1:n.*5699C>T | |
| NM_005235.3:c.*5699C>T MANE Select | NP_005226.1:n.*5699C>T |