Linked Data
dbSNP Id:
rs1280716906
gnomAD v2:
9-32550902-G-A
gnomAD v3:
9-32550904-G-A
gnomAD v4:
9-32550904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32550904G>A , CM000671.2:g.32550904G>A | GRCh38 |
| NC_000009.11:g.32550902G>A , CM000671.1:g.32550902G>A | GRCh37 |
| NC_000009.10:g.32540902G>A | NCBI36 |
| NG_017050.1:g.6721C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360538.7:c.68C>T MANE Select | ENSP00000353735.2:p.Pro23Leu | |
| ENST00000680198.1:c.68C>T | ENSP00000505143.1:p.Pro23Leu | |
| ENST00000681750.1:c.-175C>T | ENSP00000506413.1:n.-175C>T | |
| ENST00000360538.6:c.68C>T | ENSP00000353735.2:p.Pro23Leu | |
| ENST00000379858.1:c.3+1530C>T | ENSP00000369187.1:n.3+1530C>T | |
| NM_001195622.1:c.3+1530C>T | NP_001182551.1:n.3+1530C>T | |
| NM_005802.4:c.68C>T | NP_005793.2:p.Pro23Leu | |
| NM_005802.5:c.68C>T MANE Select | NP_005793.2:p.Pro23Leu | |
| NM_001195622.2:c.3+1530C>T | NP_001182551.1:n.3+1530C>T |