Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978744C>A , CM000664.2:g.214978744C>A | GRCh38 |
| NC_000002.11:g.215843468C>A , CM000664.1:g.215843468C>A | GRCh37 |
| NC_000002.10:g.215551713C>A | NCBI36 |
| NG_007074.1:g.164684G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4977+60G>T MANE Select | ENSP00000272895.7:n.4977+60G>T | |
| ENST00000272895.11:c.4977+60G>T | ENSP00000272895.7:n.4977+60G>T | |
| ENST00000389661.4:c.4023+60G>T | ENSP00000374312.4:n.4023+60G>T | |
| NM_015657.3:c.4023+60G>T | NP_056472.2:n.4023+60G>T | |
| NM_173076.2:c.4977+60G>T | NP_775099.2:n.4977+60G>T | |
| NR_103740.1:n.5277+60G>T | ||
| XM_011510951.1:c.4986+60G>T | XP_011509253.1:n.4986+60G>T | |
| XM_011510952.1:c.4986+60G>T | XP_011509254.1:n.4986+60G>T | |
| XM_011510951.2:c.4986+60G>T | XP_011509253.1:n.4986+60G>T | |
| NM_173076.3:c.4977+60G>T MANE Select | NP_775099.2:n.4977+60G>T | |
| NR_103740.2:n.5475+60G>T | ||
| NM_015657.4:c.4023+60G>T | NP_056472.2:n.4023+60G>T |