Linked Data
ClinVar Variation Id:
189593
ClinVar RCV Id:
RCV000170048
dbSNP Id:
rs786204988
PubMed:
PMID:22867051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18584309_18584310dup , CM000685.2:g.18584309_18584310dup | GRCh38 |
| NC_000023.10:g.18602429_18602430dup , CM000685.1:g.18602429_18602430dup | GRCh37 |
| NC_000023.9:g.18512350_18512351dup | NCBI36 |
| NG_008475.1:g.163705_163706dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.510_511dup MANE Select | ENSP00000485244.1:p.Tyr171CysfsTer? | |
| ENST00000635828.1:c.510_511dup | ENSP00000490170.1:p.Tyr171CysfsTer? | |
| ENST00000637881.1:c.510_511dup | ENSP00000489879.1:p.Tyr171CysfsTer? | |
| ENST00000674046.1:c.510_511dup | ENSP00000501174.1:p.Tyr171CysfsTer? | |
| ENST00000379989.6:c.510_511dup | ENSP00000369325.3:p.Tyr171CysfsTer? | |
| ENST00000379996.7:c.510_511dup | ENSP00000369332.3:p.Tyr171CysfsTer? | |
| ENST00000463994.4:c.510_511dup | ENSP00000485184.1:p.Tyr171CysfsTer? | |
| ENST00000623535.1:c.510_511dup | ENSP00000485244.1:p.Tyr171CysfsTer? | |
| NM_001037343.1:c.510_511dup | NP_001032420.1:p.Tyr171CysfsTer? | |
| NM_003159.2:c.510_511dup | NP_003150.1:p.Tyr171CysfsTer? | |
| XM_011545569.1:c.510_511dup | XP_011543871.1:p.Tyr171CysfsTer? | |
| XM_011545570.1:c.378_379dup | XP_011543872.1:p.Tyr127CysfsTer? | |
| XR_950484.1:n.762_763dup | ||
| NM_001323289.1:c.510_511dup | NP_001310218.1:p.Tyr171CysfsTer? | |
| NM_001323289.2:c.510_511dup MANE Select | NP_001310218.1:p.Tyr171CysfsTer? | |
| NM_001037343.2:c.510_511dup | NP_001032420.1:p.Tyr171CysfsTer? | |
| NM_003159.3:c.510_511dup | NP_003150.1:p.Tyr171CysfsTer? |