dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43122269A>T , CM000684.2:g.43122269A>T | GRCh38 |
| NC_000022.10:g.43518275A>T , CM000684.1:g.43518275A>T | GRCh37 |
| NC_000022.9:g.41848219A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216115.3:c.-7-1747A>T MANE Select | ENSP00000216115.2:n.-7-1747A>T | |
| ENST00000216115.2:c.-7-1747A>T | ENSP00000216115.2:n.-7-1747A>T | |
| NM_001197.4:c.-7-1747A>T | NP_001188.1:n.-7-1747A>T | |
| NM_001197.5:c.-7-1747A>T MANE Select | NP_001188.1:n.-7-1747A>T |