Linked Data
dbSNP Id:
rs768302905
ExAC:
13:113772966 G / A
gnomAD v2:
13-113772966-G-A
gnomAD v3:
13-113118652-G-A
gnomAD v4:
13-113118652-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118652G>A , CM000675.2:g.113118652G>A | GRCh38 |
| NC_000013.10:g.113772966G>A , CM000675.1:g.113772966G>A | GRCh37 |
| NC_000013.9:g.112820967G>A | NCBI36 |
| NG_009258.1:g.854G>A , LRG_548:g.854G>A | |
| NG_009262.1:g.17862G>A , LRG_554:g.17862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.979G>A MANE Select | ENSP00000329546.4:p.Asp327Asn | |
| ENST00000346342.7:c.979G>A | ENSP00000329546.3:p.Asp327Asn | |
| ENST00000375581.3:c.1045G>A | ENSP00000364731.3:p.Asp349Asn | |
| ENST00000541084.5:c.793G>A | ENSP00000442051.2:p.Asp265Asn | |
| NM_000131.4:c.1045G>A , LRG_554t1:c.1045G>A | NP_000122.1:p.Asp349Asn | |
| NM_001267554.1:c.793G>A | NP_001254483.1:p.Asp265Asn | |
| NM_019616.3:c.979G>A , LRG_554t2:c.979G>A | NP_062562.1:p.Asp327Asn | |
| NR_051961.1:n.1066G>A | ||
| XM_006719963.2:c.838G>A | XP_006720026.1:p.Asp280Asn | |
| XM_011537474.1:c.1087G>A | XP_011535776.1:p.Asp363Asn | |
| XM_011537475.1:c.901G>A | XP_011535777.1:p.Asp301Asn | |
| XM_011537476.1:c.739G>A | XP_011535778.1:p.Asp247Asn | |
| XM_011537477.1:c.1048G>A | XP_011535779.1:p.Asp350Asn | |
| XM_006719963.3:c.883G>A | XP_006720026.2:p.Asp295Asn | |
| XM_011537474.2:c.1132G>A | XP_011535776.2:p.Asp378Asn | |
| XM_011537475.2:c.946G>A | XP_011535777.2:p.Asp316Asn | |
| XM_011537476.2:c.739G>A | XP_011535778.1:p.Asp247Asn | |
| NM_019616.4:c.979G>A MANE Select | NP_062562.1:p.Asp327Asn | |
| NR_051961.2:n.1063G>A | ||
| NM_001267554.2:c.793G>A | NP_001254483.1:p.Asp265Asn |