Linked Data
dbSNP Id:
rs1449967057
gnomAD v2:
9-132575998-G-A
gnomAD v3:
9-129813719-G-A
gnomAD v4:
9-129813719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813719G>A , CM000671.2:g.129813719G>A | GRCh38 |
| NC_000009.11:g.132575998G>A , CM000671.1:g.132575998G>A | GRCh37 |
| NC_000009.10:g.131615819G>A | NCBI36 |
| NG_008049.1:g.15444C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.*253C>T MANE Select | ENSP00000345719.4:n.*253C>T | |
| ENST00000651202.1:c.*520C>T | ENSP00000498222.1:n.*520C>T | |
| ENST00000351698.4:c.*253C>T | ENSP00000345719.4:n.*253C>T | |
| ENST00000474192.1:n.836C>T | ||
| NM_000113.2:c.*253C>T | NP_000104.1:n.*253C>T | |
| XR_929731.3:n.1447C>T | ||
| NM_000113.3:c.*253C>T MANE Select | NP_000104.1:n.*253C>T |