Linked Data
ClinVar Variation Id:
508708
ClinVar RCV Id:
RCV000963712
dbSNP Id:
rs35579086
ExAC:
13:60485919 A / G
gnomAD v2:
13-60485919-A-G
gnomAD v3:
13-59911785-A-G
gnomAD v4:
13-59911785-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.59911785A>G , CM000675.2:g.59911785A>G | GRCh38 |
| NC_000013.10:g.60485919A>G , CM000675.1:g.60485919A>G | GRCh37 |
| NC_000013.9:g.59383920A>G | NCBI36 |
| NG_032693.1:g.257201T>C | |
| NG_032693.2:g.257201T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400324.9:c.2317T>C MANE Select | ENSP00000383178.3:p.Phe773Leu | |
| ENST00000267215.8:c.2317T>C | ENSP00000267215.4:p.Phe773Leu | |
| ENST00000377908.6:c.2284T>C | ENSP00000367141.2:p.Phe762Leu | |
| ENST00000400319.5:c.2107T>C | ENSP00000383173.1:p.Phe703Leu | |
| ENST00000400320.5:c.2179T>C | ENSP00000383174.1:p.Phe727Leu | |
| ENST00000400324.8:c.2317T>C | ENSP00000383178.3:p.Phe773Leu | |
| ENST00000465066.5:c.1528T>C | ENSP00000478137.1:p.Phe510Leu | |
| ENST00000498416.2:c.1528T>C | ENSP00000479091.1:p.Phe510Leu | |
| NM_001042517.1:c.2317T>C | NP_001035982.1:p.Phe773Leu | |
| NM_001258366.1:c.2284T>C | NP_001245295.1:p.Phe762Leu | |
| NM_001258367.1:c.2179T>C | NP_001245296.1:p.Phe727Leu | |
| NM_001258368.1:c.2107T>C | NP_001245297.1:p.Phe703Leu | |
| NM_001258369.1:c.2317T>C | NP_001245298.1:p.Phe773Leu | |
| NM_001258370.1:c.1528T>C | NP_001245299.1:p.Phe510Leu | |
| NM_030932.3:c.1528T>C | NP_112194.2:p.Phe510Leu | |
| XM_006719876.1:c.1528T>C | XP_006719939.1:p.Phe510Leu | |
| XM_011535258.1:c.2317T>C | XP_011533560.1:p.Phe773Leu | |
| XM_011535259.1:c.2317T>C | XP_011533561.1:p.Phe773Leu | |
| XM_011535260.1:c.2317T>C | XP_011533562.1:p.Phe773Leu | |
| XM_011535261.1:c.2107T>C | XP_011533563.1:p.Phe703Leu | |
| XM_011535262.1:c.1528T>C | XP_011533564.1:p.Phe510Leu | |
| XR_941672.1:n.2479T>C | ||
| XM_011535258.2:c.2317T>C | XP_011533560.1:p.Phe773Leu | |
| XM_024449422.1:c.2317T>C | XP_024305190.1:p.Phe773Leu | |
| XR_001749694.1:n.2501T>C | ||
| XR_002957477.1:n.2479T>C | ||
| XR_002957478.1:n.2479T>C | ||
| XR_002957479.1:n.2479T>C | ||
| XR_002957480.1:n.2479T>C | ||
| NM_001042517.2:c.2317T>C MANE Select | NP_001035982.1:p.Phe773Leu | |
| NM_001258366.2:c.2284T>C | NP_001245295.1:p.Phe762Leu | |
| NM_001258367.2:c.2179T>C | NP_001245296.1:p.Phe727Leu | |
| NM_001258368.2:c.2107T>C | NP_001245297.1:p.Phe703Leu | |
| NM_001258370.2:c.1528T>C | NP_001245299.1:p.Phe510Leu | |
| NM_001258369.2:c.2317T>C | NP_001245298.1:p.Phe773Leu | |
| NM_030932.4:c.1528T>C | NP_112194.2:p.Phe510Leu |