Linked Data
dbSNP Id:
rs758200016
ExAC:
2:215843502 G / GA
gnomAD v2:
2-215843502-G-GA
gnomAD v3:
2-214978778-G-GA
gnomAD v4:
2-214978778-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978786dup , CM000664.2:g.214978786dup | GRCh38 |
| NC_000002.11:g.215843510dup , CM000664.1:g.215843510dup | GRCh37 |
| NC_000002.10:g.215551755dup | NCBI36 |
| NG_007074.1:g.164649dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.4977+25dup MANE Select | ENSP00000272895.7:n.4977+25dup | |
| ENST00000272895.11:c.4977+25dup | ENSP00000272895.7:n.4977+25dup | |
| ENST00000389661.4:c.4023+25dup | ENSP00000374312.4:n.4023+25dup | |
| NM_015657.3:c.4023+25dup | NP_056472.2:n.4023+25dup | |
| NM_173076.2:c.4977+25dup | NP_775099.2:n.4977+25dup | |
| NR_103740.1:n.5277+25dup | ||
| XM_011510951.1:c.4986+25dup | XP_011509253.1:n.4986+25dup | |
| XM_011510952.1:c.4986+25dup | XP_011509254.1:n.4986+25dup | |
| XM_011510951.2:c.4986+25dup | XP_011509253.1:n.4986+25dup | |
| NM_173076.3:c.4977+25dup MANE Select | NP_775099.2:n.4977+25dup | |
| NR_103740.2:n.5475+25dup | ||
| NM_015657.4:c.4023+25dup | NP_056472.2:n.4023+25dup |