Linked Data
ClinVar Variation Id:
130549
ClinVar RCV Id:
RCV000118589
dbSNP Id:
rs1062087
ExAC:
13:75884216 C / T
gnomAD v2:
13-75884216-C-T
gnomAD v3:
13-75310080-C-T
gnomAD v4:
13-75310080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.75310080C>T , CM000675.2:g.75310080C>T | GRCh38 |
| NC_000013.10:g.75884216C>T , CM000675.1:g.75884216C>T | GRCh37 |
| NC_000013.9:g.74782217C>T | NCBI36 |
| NG_042850.1:g.177089G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377636.8:c.2455G>A MANE Select | ENSP00000366863.3:p.Val819Ile | |
| ENST00000648194.1:c.1723G>A | ENSP00000496983.1:p.Val575Ile | |
| ENST00000377625.6:c.2266G>A | ENSP00000366852.2:p.Val756Ile | |
| ENST00000377636.7:c.2455G>A | ENSP00000366863.3:p.Val819Ile | |
| ENST00000413735.1:c.802G>A | ENSP00000396932.1:p.Val268Ile | |
| ENST00000431480.6:c.2431G>A | ENSP00000395986.2:p.Val811Ile | |
| ENST00000493487.1:n.314G>A | ||
| NM_001286658.1:c.2431G>A | NP_001273587.1:p.Val811Ile | |
| NM_001286658.2:c.2431G>A | NP_001273587.1:p.Val811Ile | |
| NM_001286659.1:c.2266G>A | NP_001273588.1:p.Val756Ile | |
| NM_001286659.2:c.2266G>A | NP_001273588.1:p.Val756Ile | |
| NM_014832.3:c.2455G>A | NP_055647.2:p.Val819Ile | |
| NM_014832.4:c.2455G>A | NP_055647.2:p.Val819Ile | |
| XM_005266603.1:c.2380G>A | XP_005266660.1:p.Val794Ile | |
| XM_005266605.1:c.1912G>A | XP_005266662.1:p.Val638Ile | |
| XM_006719903.2:c.1981G>A | XP_006719966.1:p.Val661Ile | |
| XM_011535331.1:c.2344G>A | XP_011533633.1:p.Val782Ile | |
| XM_005266603.2:c.2380G>A | XP_005266660.1:p.Val794Ile | |
| XM_005266605.3:c.1912G>A | XP_005266662.1:p.Val638Ile | |
| XM_006719903.3:c.1981G>A | XP_006719966.1:p.Val661Ile | |
| XM_011535331.2:c.2344G>A | XP_011533633.1:p.Val782Ile | |
| XM_017020882.2:c.1723G>A | XP_016876371.1:p.Val575Ile | |
| XM_017020883.2:c.1612G>A | XP_016876372.1:p.Val538Ile | |
| XM_017020884.2:c.22G>A | XP_016876373.1:p.Val8Ile | |
| NM_014832.5:c.2455G>A MANE Select | NP_055647.2:p.Val819Ile |