gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196024759T>A , CM000665.2:g.196024759T>A | GRCh38 |
| NC_000003.11:g.195751630T>A , CM000665.1:g.195751630T>A | GRCh37 |
| NC_000003.10:g.197236027T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698274.1:c.*37+2378A>T | ENSP00000513645.1:n.*37+2378A>T | |
| XR_924882.1:n.1114+2378A>T | ||
| XR_924883.1:n.1115-801A>T | ||
| XR_924884.1:n.303+2378A>T | ||
| XR_924885.1:n.1114+2378A>T | ||
| XR_924886.1:n.1114+2378A>T | ||
| XR_924887.1:n.1114+2378A>T | ||
| XM_024453732.1:c.*37+2378A>T | XP_024309500.1:n.*37+2378A>T | |
| XR_002959575.1:n.2269-801A>T | ||
| XR_002959576.1:n.2268+2378A>T | ||
| XR_002959577.1:n.2269-798A>T | ||
| XR_002959578.1:n.2268+2378A>T |