dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.136797654T>A , CM000664.2:g.136797654T>A | GRCh38 |
| NC_000002.11:g.137555224T>A , CM000664.1:g.137555224T>A | GRCh37 |
| NC_000002.10:g.137271694T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.-36+31967T>A MANE Select | ENSP00000387145.1:n.-36+31967T>A | |
| ENST00000409968.5:c.-36+31967T>A | ENSP00000387145.1:n.-36+31967T>A | |
| ENST00000472720.5:c.-36+31967T>A | ENSP00000473349.1:n.-36+31967T>A | |
| NM_001316349.1:c.-36+31967T>A | NP_001303278.1:n.-36+31967T>A | |
| NM_001316349.2:c.-36+31967T>A MANE Select | NP_001303278.1:n.-36+31967T>A |