Linked Data
dbSNP Id:
rs7588550
gnomAD v2:
2-213168768-G-A
gnomAD v3:
2-212304043-G-A
gnomAD v4:
2-212304043-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.212304043G>A , CM000664.2:g.212304043G>A | GRCh38 |
| NC_000002.11:g.213168768G>A , CM000664.1:g.213168768G>A | GRCh37 |
| NC_000002.10:g.212877013G>A | NCBI36 |
| NG_011805.1:g.239585C>T | |
| NG_011805.2:g.239586C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260943.11:c.83-179140C>T | ENSP00000260943.7:n.83-179140C>T | |
| ENST00000342788.9:c.83-179140C>T MANE Select | ENSP00000342235.4:n.83-179140C>T | |
| ENST00000260943.10:c.82-179140C>T | ||
| ENST00000342788.8:c.83-179140C>T | ENSP00000342235.4:n.83-179140C>T | |
| ENST00000435846.1:c.-96+125116C>T | ENSP00000405564.1:n.-96+125116C>T | |
| ENST00000436443.5:c.83-179140C>T | ENSP00000403204.1:n.83-179140C>T | |
| ENST00000484594.5:n.135-179140C>T | ||
| NM_001042599.1:c.83-179140C>T | NP_001036064.1:n.83-179140C>T | |
| NM_005235.2:c.83-179140C>T | NP_005226.1:n.83-179140C>T | |
| XM_005246375.1:c.83-179140C>T | XP_005246432.1:n.83-179140C>T | |
| XM_005246376.1:c.83-179140C>T | XP_005246433.1:n.83-179140C>T | |
| XM_005246377.1:c.83-179140C>T | XP_005246434.1:n.83-179140C>T | |
| XM_006712364.1:c.83-179140C>T | XP_006712427.1:n.83-179140C>T | |
| XM_005246376.3:c.83-179140C>T | XP_005246433.1:n.83-179140C>T | |
| XM_005246377.3:c.83-179140C>T | XP_005246434.1:n.83-179140C>T | |
| XM_006712364.3:c.83-179140C>T | XP_006712427.1:n.83-179140C>T | |
| XM_017003577.2:c.83-179140C>T | XP_016859066.1:n.83-179140C>T | |
| XM_017003578.2:c.83-179140C>T | XP_016859067.1:n.83-179140C>T | |
| XM_017003579.2:c.83-179140C>T | XP_016859068.1:n.83-179140C>T | |
| XM_017003580.2:c.83-179140C>T | XP_016859069.1:n.83-179140C>T | |
| XM_017003581.2:c.83-179140C>T | XP_016859070.1:n.83-179140C>T | |
| NM_005235.3:c.83-179140C>T MANE Select | NP_005226.1:n.83-179140C>T |