Linked Data
ClinVar Variation Id:
993946
ClinVar RCV Id:
RCV001286268
dbSNP Id:
rs1481450955
gnomAD v2:
11-71146628-G-T
gnomAD v3:
11-71435582-G-T
gnomAD v4:
11-71435582-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435582G>T , CM000673.2:g.71435582G>T | GRCh38 |
| NC_000011.9:g.71146628G>T , CM000673.1:g.71146628G>T | GRCh37 |
| NC_000011.8:g.70824276G>T | NCBI36 |
| NG_012655.2:g.17850C>A , LRG_340:g.17850C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1221C>A | ENSP00000435707.3:p.Asn407Lys | |
| ENST00000526780.6:c.1221C>A | ENSP00000435668.2:p.Asn407Lys | |
| ENST00000527316.6:c.1047C>A | ENSP00000435047.2:p.Asn349Lys | |
| ENST00000682708.1:c.1272C>A | ENSP00000506866.1:p.Asn424Lys | |
| ENST00000683287.1:c.1257C>A | ENSP00000507607.1:p.Asn419Lys | |
| ENST00000683714.1:c.1229C>A | ENSP00000508207.1:p.Thr410Asn | |
| ENST00000684396.1:n.1261C>A | ||
| ENST00000685320.1:c.636C>A | ENSP00000509319.1:p.Asn212Lys | |
| ENST00000690257.1:c.1125C>A | ENSP00000510750.1:p.Asn375Lys | |
| ENST00000355527.8:c.1221C>A MANE Select | ENSP00000347717.4:p.Asn407Lys | |
| ENST00000355527.7:c.1221C>A | ENSP00000347717.3:p.Asn407Lys | |
| ENST00000407721.6:c.1221C>A | ENSP00000384739.2:p.Asn407Lys | |
| ENST00000525137.1:c.722C>A | ENSP00000435956.1:p.Thr241Asn | |
| ENST00000533800.5:c.471C>A | ENSP00000435011.1:p.Asn157Lys | |
| ENST00000534795.5:c.319+2230C>A | ||
| NM_001163817.1:c.1221C>A | NP_001157289.1:p.Asn407Lys | |
| NM_001360.2:c.1221C>A , LRG_340t1:c.1221C>A | NP_001351.2:p.Asn407Lys | |
| XM_011544777.1:c.1355C>A | XP_011543079.1:p.Thr452Asn | |
| XM_011544777.2:c.1355C>A | XP_011543079.1:p.Thr452Asn | |
| NM_001163817.2:c.1221C>A | NP_001157289.1:p.Asn407Lys | |
| NM_001360.3:c.1221C>A MANE Select | NP_001351.2:p.Asn407Lys |