Linked Data
dbSNP Id:
rs1421605123
gnomAD v2:
3-143020903-G-T
gnomAD v3:
3-143302061-G-T
gnomAD v4:
3-143302061-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143302061G>T , CM000665.2:g.143302061G>T | GRCh38 |
| NC_000003.11:g.143020903G>T , CM000665.1:g.143020903G>T | GRCh37 |
| NC_000003.10:g.144503593G>T | NCBI36 |
| NG_017077.1:g.551471C>A | |
| NG_017077.2:g.551471C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.1605-33081C>A MANE Select | ENSP00000320246.6:n.1605-33081C>A | |
| ENST00000316549.10:c.1605-33081C>A | ENSP00000320246.6:n.1605-33081C>A | |
| NM_173653.3:c.1605-33081C>A | NP_775924.1:n.1605-33081C>A | |
| XM_011512703.1:c.957-33081C>A | XP_011511005.1:n.957-33081C>A | |
| XM_011512703.3:c.957-33081C>A | XP_011511005.1:n.957-33081C>A | |
| XM_017006202.2:c.1712-17719C>A | XP_016861691.1:n.1712-17719C>A | |
| XM_017006203.1:c.1254-33081C>A | XP_016861692.1:n.1254-33081C>A | |
| NM_173653.4:c.1605-33081C>A MANE Select | NP_775924.1:n.1605-33081C>A |