Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215049625C>T , CM000664.2:g.215049625C>T | GRCh38 |
| NC_000002.11:g.215914349C>T , CM000664.1:g.215914349C>T | GRCh37 |
| NC_000002.10:g.215622594C>T | NCBI36 |
| NG_007074.1:g.93803G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173076.3:c.693+1G>A MANE Select | NP_775099.2:n.693+1G>A |
| ENST00000272895.12:c.693+1G>A MANE Select | ENSP00000272895.7:n.693+1G>A |
| NM_173076.2:c.693+1G>A | NP_775099.2:n.693+1G>A |
| NR_103740.1:n.937+1G>A | |
| NR_103740.2:n.1135+1G>A | |
| ENST00000272895.11:c.693+1G>A | ENSP00000272895.7:n.693+1G>A |
| XM_011510951.1:c.693+1G>A | XP_011509253.1:n.693+1G>A |
| XM_011510951.2:c.693+1G>A | XP_011509253.1:n.693+1G>A |
| XM_011510952.1:c.693+1G>A | XP_011509254.1:n.693+1G>A |