Linked Data
dbSNP Id:
rs765751908
ExAC:
5:138715384 A / T
gnomAD v2:
5-138715384-A-T
gnomAD v4:
5-139379695-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139379695A>T , CM000667.2:g.139379695A>T | GRCh38 |
| NC_000005.9:g.138715384A>T , CM000667.1:g.138715384A>T | GRCh37 |
| NC_000005.8:g.138743283A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348729.8:c.908T>A MANE Select | ENSP00000302701.4:p.Ile303Asn | |
| ENST00000348729.7:c.908T>A | ENSP00000302701.4:p.Ile303Asn | |
| ENST00000353963.7:c.920T>A | ENSP00000302851.5:p.Ile307Asn | |
| ENST00000504513.1:c.164+261T>A | ||
| ENST00000506512.1:n.519T>A | ||
| NM_005847.4:c.908T>A | NP_005838.3:p.Ile303Asn | |
| NM_152685.3:c.920T>A | NP_689898.2:p.Ile307Asn | |
| XM_005272148.3:c.1028T>A | XP_005272205.3:p.Ile343Asn | |
| XM_005272149.3:c.1016T>A | XP_005272206.3:p.Ile339Asn | |
| XM_006714741.2:c.1028T>A | XP_006714804.2:p.Ile343Asn | |
| XM_011543765.1:c.1028T>A | XP_011542067.1:p.Ile343Asn | |
| XM_011543766.1:c.809T>A | XP_011542068.1:p.Ile270Asn | |
| XM_011543767.1:c.713T>A | XP_011542069.1:p.Ile238Asn | |
| XM_011543768.1:c.593T>A | XP_011542070.1:p.Ile198Asn | |
| XM_011543769.1:c.203T>A | XP_011542071.1:p.Ile68Asn | |
| XM_005272149.4:c.1016T>A | XP_005272206.3:p.Ile339Asn | |
| XM_011543765.2:c.1028T>A | XP_011542067.1:p.Ile343Asn | |
| NM_005847.5:c.908T>A MANE Select | NP_005838.3:p.Ile303Asn | |
| NM_152685.4:c.920T>A | NP_689898.2:p.Ile307Asn |