Linked Data
dbSNP Id:
rs370126985
gnomAD v2:
9-133748200-G-T
gnomAD v3:
9-130872813-G-T
gnomAD v4:
9-130872813-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872813G>T , CM000671.2:g.130872813G>T | GRCh38 |
| NC_000009.11:g.133748200G>T , CM000671.1:g.133748200G>T | GRCh37 |
| NC_000009.10:g.132738021G>T | NCBI36 |
| NG_012034.1:g.163933G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.965-47G>T | ENSP00000361423.2:n.965-47G>T | |
| ENST00000318560.6:c.908-47G>T MANE Select | ENSP00000323315.5:n.908-47G>T | |
| ENST00000372348.7:c.965-47G>T | ENSP00000361423.2:n.965-47G>T | |
| ENST00000318560.5:c.908-47G>T | ENSP00000323315.5:n.908-47G>T | |
| ENST00000372348.6:c.965-47G>T | ENSP00000361423.2:n.965-47G>T | |
| NM_005157.5:c.908-47G>T | NP_005148.2:n.908-47G>T | |
| NM_007313.2:c.965-47G>T | NP_009297.2:n.965-47G>T | |
| NM_005157.6:c.908-47G>T MANE Select | NP_005148.2:n.908-47G>T | |
| NM_007313.3:c.965-47G>T | NP_009297.2:n.965-47G>T |