Linked Data
ClinVar Variation Id:
14835
dbSNP Id:
rs121912551
ExAC:
7:128038485 C / T
gnomAD v2:
7-128038485-C-T
gnomAD v3:
7-128398431-C-T
gnomAD v4:
7-128398431-C-T
COSMIC:
COSM1673521
PubMed:
PMID:11875050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128398431C>T , CM000669.2:g.128398431C>T | GRCh38 |
| NC_000007.13:g.128038485C>T , CM000669.1:g.128038485C>T | GRCh37 |
| NC_000007.12:g.127825721C>T | NCBI36 |
| NG_009194.1:g.16552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348127.11:c.949G>A | ENSP00000265385.8:p.Val317Ile | |
| ENST00000484496.6:n.932G>A | ||
| ENST00000338791.11:c.1057G>A MANE Select | ENSP00000345096.6:p.Val353Ile | |
| ENST00000648462.1:c.689G>A | ||
| ENST00000338791.10:c.1057G>A | ENSP00000345096.6:p.Val353Ile | |
| ENST00000348127.10:c.949G>A | ENSP00000265385.8:p.Val317Ile | |
| ENST00000354269.9:c.1027G>A | ENSP00000346219.5:p.Val343Ile | |
| ENST00000419067.6:c.958G>A | ENSP00000399400.2:p.Val320Ile | |
| ENST00000469328.5:c.822G>A | ||
| ENST00000470772.5:c.799G>A | ENSP00000417296.1:p.Val267Ile | |
| ENST00000480861.5:c.787G>A | ENSP00000420185.1:p.Val263Ile | |
| ENST00000484496.5:c.932G>A | ENSP00000418742.1:n.932G>A | |
| ENST00000496200.5:c.727G>A | ENSP00000420803.1:p.Val243Ile | |
| ENST00000497868.5:c.850G>A | ENSP00000419609.1:p.Val284Ile | |
| ENST00000626419.2:c.799G>A | ENSP00000486056.1:p.Val267Ile | |
| NM_000883.3:c.1057G>A | NP_000874.2:p.Val353Ile | |
| NM_001102605.1:c.1027G>A | NP_001096075.1:p.Val343Ile | |
| NM_001142573.1:c.802G>A | NP_001136045.1:p.Val268Ile | |
| NM_001142574.1:c.787G>A | NP_001136046.1:p.Val263Ile | |
| NM_001142575.1:c.727G>A | NP_001136047.1:p.Val243Ile | |
| NM_001142576.1:c.958G>A | NP_001136048.1:p.Val320Ile | |
| NM_001304521.1:c.850G>A | NP_001291450.1:p.Val284Ile | |
| NM_183243.2:c.949G>A | NP_899066.1:p.Val317Ile | |
| XM_005250314.1:c.826G>A | XP_005250371.1:p.Val276Ile | |
| XM_006715967.1:c.1057G>A | XP_006716030.1:p.Val353Ile | |
| XM_006715968.1:c.1027G>A | XP_006716031.1:p.Val343Ile | |
| XM_006715969.1:c.949G>A | XP_006716032.1:p.Val317Ile | |
| XM_006715970.2:c.850G>A | XP_006716033.1:p.Val284Ile | |
| XM_006715971.1:c.826G>A | XP_006716034.1:p.Val276Ile | |
| XM_011516156.1:c.439G>A | XP_011514458.1:p.Val147Ile | |
| XM_011516157.1:c.439G>A | XP_011514459.1:p.Val147Ile | |
| XM_017012172.1:c.826G>A | XP_016867661.1:p.Val276Ile | |
| XM_017012173.1:c.1027G>A | XP_016867662.1:p.Val343Ile | |
| XM_024446755.1:c.1027G>A | XP_024302523.1:p.Val343Ile | |
| XM_024446756.1:c.949G>A | XP_024302524.1:p.Val317Ile | |
| XM_024446757.1:c.850G>A | XP_024302525.1:p.Val284Ile | |
| XM_024446758.1:c.826G>A | XP_024302526.1:p.Val276Ile | |
| NM_000883.4:c.1057G>A MANE Select | NP_000874.2:p.Val353Ile | |
| NM_001102605.2:c.1027G>A | NP_001096075.1:p.Val343Ile | |
| NM_001142573.2:c.802G>A | NP_001136045.1:p.Val268Ile | |
| NM_001142574.2:c.787G>A | NP_001136046.1:p.Val263Ile | |
| NM_001142575.2:c.727G>A | NP_001136047.1:p.Val243Ile | |
| NM_001142576.2:c.958G>A | NP_001136048.1:p.Val320Ile | |
| NM_001304521.2:c.850G>A | NP_001291450.1:p.Val284Ile | |
| NM_183243.3:c.949G>A | NP_899066.1:p.Val317Ile |