Linked Data
ClinVar Variation Id:
955
dbSNP Id:
rs121918166
ExAC:
15:28230247 C / T
gnomAD v2:
15-28230247-C-T
gnomAD v3:
15-27985101-C-T
gnomAD v4:
15-27985101-C-T
PubMed:
PMID:1773534
PMID:8302318
PMID:8421497
PMID:8980282
PMID:10094567
PMID:10987646
PMID:11310796
PMID:11464238
PMID:12469324
PMID:12876664
PMID:15712365
PMID:15889046
PMID:17236130
PMID:17960121
PMID:18463683
PMID:20301410
PMID:20861488
PMID:21085994
PMID:21292473
PMID:23504663
PMID:23891399
PMID:25093188
PMID:25513726
PMID:26165494
PMID:26474496
PMID:26818737
PMID:27231233
PMID:27468418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27985101C>T , CM000677.2:g.27985101C>T | GRCh38 |
| NC_000015.9:g.28230247C>T , CM000677.1:g.28230247C>T | GRCh37 |
| NC_000015.8:g.25903842C>T | NCBI36 |
| NG_009846.1:g.119212G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354638.8:c.1327G>A MANE Select | ENSP00000346659.3:p.Val443Ile | |
| ENST00000353809.9:c.1255G>A | ENSP00000261276.8:p.Val419Ile | |
| ENST00000354638.7:c.1327G>A | ENSP00000346659.3:p.Val443Ile | |
| NM_000275.2:c.1327G>A | NP_000266.2:p.Val443Ile | |
| NM_001300984.1:c.1255G>A | NP_001287913.1:p.Val419Ile | |
| XM_011521639.1:c.1351G>A | XP_011519941.1:p.Val451Ile | |
| XM_011521640.1:c.1327G>A | XP_011519942.1:p.Val443Ile | |
| XM_011521641.1:c.1351G>A | XP_011519943.1:p.Val451Ile | |
| XM_011521642.1:c.1279G>A | XP_011519944.1:p.Val427Ile | |
| XM_011521643.1:c.1279G>A | XP_011519945.1:p.Val427Ile | |
| XM_011521644.1:c.1213G>A | XP_011519946.1:p.Val405Ile | |
| XM_011521645.1:c.1351G>A | XP_011519947.1:p.Val451Ile | |
| XM_011521646.1:c.1351G>A | XP_011519948.1:p.Val451Ile | |
| XM_011521647.1:c.1351G>A | XP_011519949.1:p.Val451Ile | |
| XR_931843.1:n.2712G>A | ||
| XM_011521640.2:c.1327G>A | XP_011519942.1:p.Val443Ile | |
| XM_017022255.1:c.1351G>A | XP_016877744.1:p.Val451Ile | |
| XM_017022256.1:c.1351G>A | XP_016877745.1:p.Val451Ile | |
| XM_017022257.1:c.1279G>A | XP_016877746.1:p.Val427Ile | |
| XM_017022258.1:c.1351G>A | XP_016877747.1:p.Val451Ile | |
| XM_017022259.1:c.1279G>A | XP_016877748.1:p.Val427Ile | |
| XM_017022260.1:c.1213G>A | XP_016877749.1:p.Val405Ile | |
| XM_017022261.1:c.1156G>A | XP_016877750.1:p.Val386Ile | |
| XM_017022262.1:c.1351G>A | XP_016877751.1:p.Val451Ile | |
| XM_017022263.1:c.1351G>A | XP_016877752.1:p.Val451Ile | |
| XM_017022264.1:c.1351G>A | XP_016877753.1:p.Val451Ile | |
| XM_017022265.1:c.1351G>A | XP_016877754.1:p.Val451Ile | |
| XR_001751294.1:n.1440G>A | ||
| NM_000275.3:c.1327G>A MANE Select | NP_000266.2:p.Val443Ile | |
| NM_001300984.2:c.1255G>A | NP_001287913.1:p.Val419Ile |